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Table of Content

Open Access Original Research

Molecular Cytogenetic Characterization of Rare but Repeatedly Observed Translocations

Received: 15 April 2024;  Published: 11 June 2024;  doi: 10.21926/obm.genet.2402240

Abstract

Balanced chromosomal rearrangements, including translocations, contribute to infertility, repeated abortions, and/or genetically imbalanced offspring in corresponding carriers. A translocation is usually considered a unique, de novo, or familial event. Besides, some translocations have also been shown to develop multiple times with slightly different or even identical breakpoints; for others, founder effects have been suggested. Here, two known recurrent translocations [t(11;22)(q23.3;q11.21) and der(X)t(X; Y)(p22. [...]

722 4113

Open Access Research Article

Reflective Evaluation of Next-Generation Sequencing Data during Early Phase Detection of the Delta Variant

Received: 01 March 2024;  Published: 30 May 2024;  doi: 10.21926/obm.genet.2402239

Abstract

During the SARS-CoV-2 pandemic, next-generation sequencing (NGS) technologies like the Ion Torrent S5 and Illumina MiSeq, alongside advanced software, improved genomic surveillance in South Africa. This study analysed anonymized samples from the Eastern Cape using Genome Detective and NextClade, showing Ion Torrent S5 and Illumina MiSeq success rates of 96% and 94%, respectively. The study focused on genomic coverage (above 80%) and mutation detection (below 100), with the Ion Torrent S5 achieving 99% coverage comp [...]

1661 7064

Open Access Review

Biotechnology Innovation in Do-It-Yourself (DIY) Gene Editing: A Call for a New Regulatory Framework

Received: 04 March 2024;  Published: 29 May 2024;  doi: 10.21926/obm.genet.2402238

Abstract

The expansion of do-it-yourself (DIY) gene editing, facilitated by Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology, has catalyzed a significant shift in scientific research and biotechnology innovation. This movement is propelled by a community-driven approach that challenges the traditional confines of scientific exploration, allowing amateur scientists to perform sophisticated biological experiments. While this democratization fosters inclusivity and accelerates innovation, it simult [...]

1749 15577

Open Access Review

Bacteriophages Therapy: Exploring Their Promising Role in Microbiome Modulation and Combatting Antibiotic Resistance

Received: 28 February 2024;  Published: 28 May 2024;  doi: 10.21926/obm.genet.2402237

Abstract

Bacteriophages, or phages, are viruses that infect bacteria, exhibiting specificity towards particular bacterial strains. Despite being overshadowed by traditional antibiotics in the West, interest in phage therapy has resurged due to the escalating antimicrobial resistance crisis. Understanding phage biology, selection, production, and pharmacology is crucial for their clinical application. Phages interact intricately with the human microbiome, influencing bacterial populations and potentially offering therapeutic [...]

1216 8593

Open Access Original Research

The Significance of Key Proteins in the RAS Signaling Pathway: Implications for Cancer and Therapeutic Targets

Received: 18 January 2024;  Published: 24 May 2024;  doi: 10.21926/obm.genet.2402236

Abstract

The RAS signaling pathway is a crucial cell transduction pathway central to transmitting signals from outside the cell to the cell nucleus and influencing fundamental biological mechanisms like cell growth, division, and specialization. This signaling pathway has recently received much attention in scientific research because of its involvement in various diseases, especially carcinogenesis. Our study identified the significance of crucial proteins in the RAS signaling cascade in cancer development and progression. [...]

946 6605

Open Access Original Research

Cryptic Resilience: Decoding Molecular Networks in Pearl Millet for Enhanced Heat Stress

Received: 20 February 2024;  Published: 20 May 2024;  doi: 10.21926/obm.genet.2402235

Abstract

Pearl millet (Pennisetum glaucum), a vital cereal crop renowned for its drought tolerance, is a cornerstone for smallholder farmers in arid and semi-arid regions, ranking as the fifth most significant cereal globally. Despite its resilience, the molecular mechanisms underlying its tolerance to heat stress remained elusive. To address this knowledge gap, we subjected ten-day-old pearl millet seedlings to an unprecedented temperature of 50°C for 60 seconds. Subsequent next-generation RNA sequencing aimed to unrav [...]

1353 7231

Open Access Opinion

Prevention of Drug Resistant Epilepsy and Developmental Epileptic Encephalopathy: Preventative Vigabatrin Treatment in Tuberous Sclerosis Complex and the Case for Fenfluramine Treatment of Children with Newly Diagnosed Dravet Syndrome

Received: 15 February 2024;  Published: 08 May 2024;  doi: 10.21926/obm.genet.2402234

Abstract

Tuberous sclerosis complex (TSC) is caused by mutations of hamartin (TSC1) or tuberin (TSC2) resulting in disinhibition of the mTOR pathway of cellular proliferation and differentiation and severe neurocognitive impairment, intractable epilepsy and tumors. Epilepsy develops in ~90% folllowed by drug-resistant epilepsy (DRE). Recently, prevention of DRE and developmental encephalopathy was shown to be possible in TSC using early administration of vigabatrin. For the first time, medical treatment successfully prevent [...]

846 5598

Open Access Review

Induced Mutagenesis using Gamma Rays: Biological Features and Applications in Crop Improvement

Received: 24 December 2023;  Published: 29 April 2024;  doi: 10.21926/obm.genet.2402233

Abstract

Induced mutagenesis has emerged as an essential field of plant breeding to address global food security challenges, offering tools to enhance crop productivity, resistance, and nutritional value. Among the mutation induction tools, the physical mutagen such as gamma rays holds promise for efficient mutation induction. Gamma rays, a type of high-energy electromagnetic radiation, possess unique characteristics that enable them to penetrate plant tissues and induce genetic mutations. The biological effects are influen [...]

2432 29252

Open Access Review

Salinity Stress in Maize: Consequences, Tolerance Mechanisms, and Management Strategies

Received: 04 December 2023;  Published: 29 April 2024;  doi: 10.21926/obm.genet.2402232

Abstract

Maize, along with rice and wheat, is a popular staple food crop worldwide, and the most widely produced cereal crop. It is a versatile crop that may be utilized as a source of raw materials for human and animal fodders. Low agricultural yield and rapid population expansion significantly threaten future food security. Maize production is hampered by biotic and abiotic causes, with abiotic factors being the most critical limitation to agricultural output worldwide. Soil salinity is a key abiotic factor that reduces a [...]

1671 18500

Open Access Original Research

Unveiling Genetic Variation in Garlic Genotypes in Response to Rust Disease Using RAPD Markers

Received: 23 January 2024;  Published: 28 April 2024;  doi: 10.21926/obm.genet.2402231

Abstract

Garlic (Allium sativum), cultivated worldwide for its medicinal and nutritional value, faces challenges due to diseases caused by various pathogens. In this study, eleven garlic genotypes from Iran and one from China were selected and sown under natural infection rendered by the rust fungus (Puccinia alli) over two consecutive years. Subsequently, disease distribution and severity, percentage of infection and susceptibility of different garlic genotypes to rust disease were investigated. The results showed that gen [...]

995 5515

Open Access Review

Molecular Plant Physiology for Model Plants under Abiotic Stress Conditions

Received: 23 December 2023;  Published: 24 April 2024;  doi: 10.21926/obm.genet.2402230

Abstract

Extreme temperatures, drought, and high soil salinity are some of the significant abiotic stresses that can severely impact crop yields, posing a threat to global food production. Comprehensive studies on model plant species are crucial for understanding their biochemical, physiological, and molecular responses to abiotic stresses. Identifying stress response mechanisms and potential targets can aid in developing stress-tolerant crop varieties. Additionally, elucidating the functions of reactive oxygen species is e [...]

1047 7429

Open Access Case Report

Sun Safety Struggles Among Children with Xeroderma Pigmentosum in a Tropical Low-Income Country

Received: 05 February 2024;  Published: 19 April 2024;  doi: 10.21926/obm.genet.2402229

Abstract

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by increased sensitivity to ultraviolet radiation, leading to severe skin manifestations and a higher risk of early-onset malignancies. Previous studies from temperate climate countries with sound economic levels showed adequate photoprotection compliance among pediatric XP patients. However, no studies have assessed photoprotection compliance among children with XP living in tropical and low-economic settings. This article reports a low photoprotect [...]

772 5194

Open Access Review

Newborn Screening for Neuromuscular Disorders, Disorders of Glycogen Metabolism, and Fatty Acid Oxidation

Received: 08 February 2024;  Published: 18 April 2024;  doi: 10.21926/obm.genet.2402228

Abstract

Newborn screening for neuromuscular disorders and glycogen or fatty acid oxidation disorders aims to identify infants at risk for these conditions, allowing for early intervention and management. While not all neuromuscular disorders currently have established newborn screening programs, there are various disorders for which screening is available or under investigation. Neuromuscular disorders encompass a wide range of conditions that affect the nerve, muscle, or the connection between them. Examples include spina [...]

954 4931

Open Access Original Research

A Comprehensive in Silico Analysis of the Functional and Structural Consequences of the Deleterious Missense Nonsynonymous SNPs in Human GABRA6 Gene

Received: 20 December 2023;  Published: 15 April 2024;  doi: 10.21926/obm.genet.2402227

Abstract

Epilepsy, a prevalent neurological disorder, affects more than 50 million individuals worldwide and is characterized by recurring seizures. Nonsynonymous single nucleotide polymorphisms (nsSNPs) found within coding regions of epilepsy-related genes are believed to have significant impacts on protein function. This is due to their tendency to cause mutations in the encoded amino acids, which can subsequently lead to pathogenic alterations in protein structure and function. Consequently, nsSNPs have the potential to [...]

875 6331

Open Access Original Research

Chest CT Scan Features of COVID-19 in a Hospitalized High-Altitude Population

Received: 30 November 2022;  Published: 12 April 2024;  doi: 10.21926/obm.genet.2402226

Abstract

There is a lack of knowledge regarding the type of lung compromise in high-altitude residents with COVID-19. This study aims to evaluate the lung compromise in chest CT scans of high-altitude dwellers hospitalized with COVID-19. Retrospective study that took place in "Daniel Alcides Carrión" Regional Hospital, located 3,250 meters above sea level in the city of Huancayo, Perú. 464 medical charts and chest CT images of hospitalized patients with confirmed COVID-19 from January to March 2021 were reviewed. The mean a [...]

768 4190

Open Access Review

Allelic Variation of High-Molecular-Weight Glutenin Genes in Triticum Species and Triticale (× Triticosecale Wittmack)

Received: 27 February 2024;  Published: 09 April 2024;  doi: 10.21926/obm.genet.2402225

Abstract

High-molecular-weight glutenin subunits (HMW-GS) encoded by alleles at the Glu-A1, Glu-B1, and Glu-D1 loci confer unique bread-making properties of common wheat (Triticum aestivum L.). The identification of HMW-GS is the prerequisite for pyramiding high-quality glutenin genes. The present review is designed to list all published HMW-GS alleles in Triticum species and triticale (A- and B genomes), focusing on methods for their identification. T. monococcum is characterized by 37 alleles at the Glu-1 locus versus fou [...]

1053 5807

Open Access Book Review

Book Review: Small Supernumerary Marker Chromosomes. Basics

Received: 21 February 2024;  Published: 09 April 2024;  doi: 10.21926/obm.genet.2402224

Abstract

This review provides a critical assessment of the content and structure of the recently published book by Dr. Thomas Liehr, 'Small Supernumerary Marker Chromosomes: Basics.'

646 3524

Open Access Short Report

X Ray-Induced Insulinoma Cell Line Rin-5F Has a Novel Mutation Site, C.A1459G (P.T487A), in Death Domain Associated Protein (DAXX) Gene

Received: 05 January 2024;  Published: 19 March 2024;  doi: 10.21926/obm.genet.2401223

Abstract

A popular toxicological and pharmacological research cell line is the insulin-secreting pancreatic cell line Rin-5F. The cell line originates from insulinomas induced by X-ray exposure. The author of this report looked at the mutation status of the DAXX gene in the Rin-5F cell line clone. The complete DNA and RNA were extracted from the cultivated cells as well. Double-stranded cDNA was then synthesized using the RNA template. Sequencing was done using a 3730xl DNA Analyzer. In the present study, c.A1459G (p.T487A) [...]

691 3971

Open Access Original Research

Preimplantation Genetic Testing: Personal Views Regarding the Invasiveness of Trophectoderm Biopsy and Risks on Embryos Development “An Operators Survey”

Received: 02 January 2024;  Published: 07 March 2024;  doi: 10.21926/obm.genet.2401222

Abstract

This study aims to assess the Trophectoderm (TE) biopsy practice in Jordan in terms of the following effectiveness parameters: timing of zona breaching, risk of inner cell mass herniation if zona breaching was done on day 3, timing of TE sampling, method of biopsy (pulling or flicking), number of laser pulses, assessment of embryo survival after biopsy, and degeneration rate. An online cross-sectional survey was conducted in November 2022. The collected data presented the perception of embryologists (>10 years e [...]

865 9297

Open Access Review

A Review on Male Infertility and Herbal Medicine: Complementary and Alternative Therapies in Animal Models

Received: 27 September 2023;  Published: 06 March 2024;  doi: 10.21926/obm.genet.2401221

Abstract

Various factors contributing to male infertility include genetic determinants, hormonal/neurological imbalance, erectile/libido disorders, genital tract injuries, and toxic/ischemic testicular injuries. Herbs increase sperm count and quality parameters, as well as sexual performance in infertile men, through various mechanisms. For this purpose, efforts were made to investigate effective plants in treating infertility, focusing on those studied in animal research. In this review, we explored the latest findings fro [...]

1321 11858

Open Access Case Report

Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing RAI1

Received: 30 December 2023;  Published: 05 March 2024;  doi: 10.21926/obm.genet.2401220

Abstract

Potocki-Lupski syndrome (PTLS) is a recurrent microduplication syndrome characterized by developmental delay, behavioral abnormalities, mildly dysmorphic facial features, hypotonia, and sleep disorders. We report here a 3-year-old girl diagnosed with mosaic PTLS harboring a supernumerary marker chromosome containing the RAI1 (retinoic acid induced 1) gene. Cytogenetic testing, including chromosomal microarray, karyotype, and FISH analysis, identified a ring chromosome containing portions of chromosomes 14 and 17 in [...]

893 5661

Open Access Review

Challenges and Opportunities of Gene Therapy in Cancer

Received: 07 October 2023;  Published: 04 March 2024;  doi: 10.21926/obm.genet.2401219

Abstract

Gene therapy involves either the direct introduction of genetic material (DNA or RNA) into the host cell (or organ), known as in vivo gene therapy, the re-introduction of the modified target cells taken out of the host, or ex vivo gene therapy. Cancer is mainly caused by the non-functioning of genes required for normal cell proliferation, and it has emerged as the leading cause of death globally due to the absence of efficient and safe therapies as well as early diagnostic modalities. Therapeutic trials using gene [...]

1977 24032

Open Access Case Report

The Jacobs Syndrome: Clinical Case

Received: 15 October 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401218

Abstract

This work describes a clinical case of a violation of sex formation in a newborn child with Y-chromosome dysomy. The diagnostic challenges related to Y-chromosome variability and associated anomalies in sex development are being considered. The work presents clinical and laboratory data for Y-chromosome dysomy. It is noted that the challenge in diagnosing disorders of sex development is associated with the polymorphic clinical manifestations of this syndrome. It is noted that the presence of Y-chromosome dysomy is [...]

1057 7681

Open Access Research Article

Exploring Education for Children with 22q11.2 Deletion Syndrome: A Qualitative Study of Mothers Perspectives

Received: 26 September 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401217

Abstract

22q11.2 deletion syndrome (22q11.2DS) is a complex and widely variable genetic syndrome involving multisystem physical health problems, significant cognitive and psychosocial challenges, all of which may impact upon learning and academic achievement. In the current study, we explored mothers’ perceptions of their child’s learning within early and primary educational contexts. We conducted 3 online focus groups and 1 online semi-structured interview with a total of 9 mothers of children diagnosed with 22q11.2DS. Mot [...]

985 9096

Open Access Original Research

Molecular Study on Y Chromosome Microdeletion in Male Infertility: A Cross-Sectional Design in Indonesian Men

Received: 09 October 2023;  Published: 27 February 2024;  doi: 10.21926/obm.genet.2401216

Abstract

Y chromosome microdeletions (YCMs) are one kind of genetic disorder that contributes to male infertility. This study aims to determine the profile of YCMs in the infertile male population in Indonesia. This cross-sectional study was conducted by identifying YCMs testing data on 49 infertile male patients identified with azoospermia and oligoasthenoteratozoospermia (OAT) based on their sperm analysis, who visited andrology polyclinics in several hospitals in Yogyakarta Province between March 2021 to August 2022. Stu [...]

1067 7527

Open Access Review

MiRNAs as Promising Therapeutic Targets for Breast Cancer

Received: 27 November 2023;  Published: 26 February 2024;  doi: 10.21926/obm.genet.2401215

Abstract

Breast cancer (BC) is the most common cause of cancer-related death and is the malignancy most frequently diagnosed in females worldwide. BC incidence is predicted to continue increasing worldwide. Without interventions, annual new cases will reach over 3 million by 2030. Genetic abnormalities account for almost 70% of all BC cases worldwide. Biological pathways implicated include non-coding RNAs (ncRNAs). MiRNAs are small non-coding RNA molecules that play a role in post-transcriptional regulation of gene expressi [...]

962 8004

Open Access Research Article

B5N10 Nanocarrier Functionalized with Al, C, Si Atoms: A Drug Delivery Method for Infectious Disease Remedy

Received: 27 November 2023;  Published: 21 February 2024;  doi: 10.21926/obm.genet.2401214

Abstract

As proof has recommended a close connection between COVID-19 and neurodegenerative disorders, this article aims to investigate the chloroquine (CLQ) drug as the SARS-CoV-2’s primary protease, which can prevent in vitro viral duplication of all diverse experiments to present. CLQ is an anti-viral drug enlarged by Pfizer, which can operate as an orally effective 3C-like protease inhibitor. In this study, CLQ has been assessed for its effectiveness against coronavirus by trapping it within a boron nitride nanoca [...]

885 4582

Open Access Original Research

Artocarpus Communis Seed Regulates P53, IRS, HsD17β2, FTO, and CYP11a Genes in Polycystic Ovarian Syndrome Rats

Received: 20 November 2023;  Published: 20 February 2024;  doi: 10.21926/obm.genet.2401213

Abstract

Polycystic ovarian syndrome (PCOS) is a prevalent endocrine illness that affects 5-10% of reproductive women globally. It is a multifaceted hormonal disorder characterized by the involvement of numerous molecular mechanisms that contribute to its development. This study investigates the effect of Artocarpus communis seed on the hormonal imbalance and P53, IRS, HsD17β2, FTO, and CYP11a genes expression in the ovaries of letrozole-induced polycystic ovarian syndrome rats. To induce PCOS in 30 female Wistar rats, [...]

948 4758

Open Access Review

Exploring the Regenerative Potential of Stem Cells for Treating Eye Diseases: A Review of the New Findings

Received: 27 September 2023;  Published: 31 January 2024;  doi: 10.21926/obm.genet.2401212

Abstract

The escalating prevalence of vision loss due to eye diseases has instigated a quest for innovative therapies, given that conventional approaches often fall short in repairing and regenerating damaged eye tissues, particularly the retina. Stem cell-based interventions have emerged as a promising avenue, with numerous studies in animal models and human trials exploring their potential to enhance visual acuity. Beyond addressing conditions like age-related macular degeneration (AMD) and diabetic retinopathy (DR), stem [...]

983 5766

Open Access Original Research

Investigating Cytogenetic Profiles in Couples Experiencing Recurrent Implantation Failure Post in vitro Fertilization

Received: 22 November 2023;  Published: 17 January 2024;  doi: 10.21926/obm.genet.2401211

Abstract

This study evaluates how chromosomal factors affect assisted reproduction techniques (ART) challenges among infertile couples, impacting their chances of conception. Chromosomal abnormalities, a leading cause of pregnancy failure and miscarriages, were investigated in a four-year retrospective study involving 100 patients with a history of infertility and unsuccessful IVF treatment. Among these cases, nine (9%) displayed aberrant chromosomal patterns, including balanced translocations (5%), sex chromosome deletions [...]

922 5517

Open Access Review

Krabbe Disease–To Add or Not to Newborn Screening?

Received: 07 September 2023;  Published: 12 January 2024;  doi: 10.21926/obm.genet.2401210

Abstract

Krabbe disease (KD), a severe neurodegenerative disorder, has been controversial in the space of newborn screening (NBS) in the United States. Families continue to advocate for the addition of KD to the Recommended Uniform Screening Panel (RUSP) after being declined for the second time in February 2023. Even with significant progress in KD screening tests, uncertainty about the phenotypic presentations, and effectiveness of hematopoietic stem cell transplant (HSCT) seems to have impeded the addition of this conditi [...]

1238 10163

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2023

Received: 04 January 2024;  Published: 05 January 2024;  doi: 10.21926/obm.genet.2401209

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2023. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers can download a certificate of recognition directly from our submission system. Additionally, reviewers can sign up to the Web of Sci [...]

682 3514

Open Access Original Research

Cytogenetic Effects of the Neonicotinoid Insecticides Nuprid 200 SL and Calypso 480 SC on Plant Model System

Received: 22 June 2023;  Published: 14 December 2023;  doi: 10.21926/obm.genet.2304208

Abstract

Data from the present study indicate that the neonicotinoid insecticides Nuprid 200 SL (with the active substance imidacloprid) and Calypso 480 SC (with the active substance thiacloprid) reduce the mitotic activity by inhibiting cell division and increasing chromosomal aberrations in the cells of the root apical meristem of Allium cepa L. The tested solutions of pesticides cause a wide range of anomalies associated with disorders in forming the cell's division apparatus and the integrity of chromosomes. The compara [...]

1004 5785

Open Access Review

Recent Advances in the Production of Genome-Edited Animals Using i-GONAD, a Novel in vivo Genome Editing System, and Its Possible Use for the Study of Female Reproductive Systems

Received: 17 September 2023;  Published: 12 December 2023;  doi: 10.21926/obm.genet.2304207

Abstract

Gene-engineered animals created using gene-targeting technology have long been recognized as beneficial, valid, and valuable tools for exploring the function of a gene of interest, at least in early 2013. This approach, however, suffers from laborious and time-consuming tasks, such as the production of successfully targeted embryonic stem (ES) cells, their characterization, production of chimeric blastocysts carrying these gene-modified ES cells, and transplantation of those manipulated blastocysts to the recipient [...]

1379 9683

Open Access Review

Immunomodulatory Benefits of Probiotic Bacteria: A Review of Evidence

Received: 11 April 2023;  Published: 11 December 2023;  doi: 10.21926/obm.genet.2304206

Abstract

Over the past few decades, probiotics have emerged as a viable medical tool for preventing and/or treating diseases. This narrative review provides recent findings on Probiotics and their benefits on the host immune system. It also highlights the specific mechanisms through which probiotics mediate those benefits. The study also explores the topical or systemic probiotic administration method. Authors screened databases like Google Scholar, Web of Science, PubMed, Scopus, and China National Knowledge Infrastructure [...]

1323 19039

Open Access Original Research

Problems of Motor Development of 6-7 Years Old Children with Autism Spectrum Disorders

Received: 21 September 2023;  Published: 11 December 2023;  doi: 10.21926/obm.genet.2304205

Abstract

According to modern research, there is a high risk of motor development disorders in children 6-7 years old with autism spectrum disorders. This determines the relevance of studying the problem of individual differences in motor development of children 6-7 years old with autism spectrum disorders, the need for objective assessment of its level, and the determination of group and individual strategies for correction of motor development. The study identifies and evaluates the motor development problems of 6-7-year-o [...]

916 4881

Open Access Original Research

Characterization of ‘Ca. Phytoplasma asteris’, ‘Ca. Phytoplasma australiense’ and ‘Ca. Phytoplasma mali’ Associated with Russian Olive Witches’-Broom Disease in Iran Using Next-Generation Sequencing

Received: 31 August 2023;  Published: 04 December 2023;  doi: 10.21926/obm.genet.2304204

Abstract

Russian olive trees showing witches’-broom disease symptoms in urban green spaces and orchards in northwest Iran were sampled for phytoplasma detection. PCR assays and Sanger sequencing of 16S rRNA gene confirmed that ‘Ca. Phytoplasma asteris’ was associated with Russian olive witches’-broom disease. For genomic characterization of phytoplasma associated with disease, the total DNA of an infected tree was analyzed by Illumina next-generation sequencing (NGS). The NGS analysis generated 46011 [...]

987 5265

Open Access Research Article

The Complete Chloroplast Genome Sequence of Actinidia arguta var. purpurea

Received: 16 October 2023;  Published: 24 November 2023;  doi: 10.21926/obm.genet.2304203

Abstract

In this study, we report the complete chloroplast genome of Actinidia arguta var. purpurea. The chloroplast genome is 157,369 bp long as the circular (GC ratio is 37.22%). It has four subregions: a large single-copy (LSC) region of 88,609 bp, a small single-copy (SSC) region of 20,470 bp, and two inverted repeat regions (IRs) of 24,145 bp in each. The chloroplast genome of A. arguta var. purpurea contains a total of 113 unique genes, which are 79 protein-coding genes, 4 rRNA genes, and 3 [...]

1231 6891

Open Access Case Report

Progressive Pseudo-Rheumatoid Dysplasia a Rare Genetic Musculoskeletal Condition Causing Crippling Disability in a Young Boy- a Case Report

Received: 05 July 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304202

Abstract

Progressive pseudo-rheumatoid dysplasia (PPRD) is an uncommon genetic condition inherited in an autosomal recessive mode caused by a mutation in the WNT1-inducible signaling pathway protein 3 (WISP3) located on chromosome 6q21. In this condition, the articular cartilage gradually deteriorates, causing severe discomfort, stiffness, and joint deformities with a relatively high prevalence in Middle Eastern countries. Camptodactyly and platyspondyly are the standard features found in this condition. We present a very y [...]

889 6080

Open Access Concept Paper

Four Decades of Newborn Screening: A Historical Perspective of Laboratory Practices

Received: 21 March 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304201

Abstract

The personal experience of 36 years in charge of the Newborn Screening Laboratory in Galicia and the consequences of the recent advancement of sampling from 3 days to 24 hours of the newborn's life are reviewed. The implication in the results of the assay of reducers in urine with the Mandelin reagent and its alternatives is commented. The implication in the effects of TSH in blood and the possible ways of dealing with the situation. Since 1978, the Newborn Screening Program in Galicia has maintained the urine samp [...]

795 4976

Open Access Original Research

Somaclonal Variation in Callus Cultures of Rose Periwinkle, Catharanthus Roseus L. Under Induced Salt and Osmotic Stresses

Received: 29 July 2023;  Published: 26 October 2023;  doi: 10.21926/obm.genet.2304200

Abstract

The experiment was carried out at the laboratories of the National Commission for Biotechnology in Syria during the period 2020-2022 to detect the somaclonal genetic variation occurring in callus cultures at different ages and to compare them with the In vitro growing plants and introduced species of Rose Periwinkle that grew up in the Syrian environment, in addition, exploring the effect of abiotic stresses in causing genetic variations in callus, by the Inter Simple Sequence Repeats technique (ISSR) using 21 prim [...]

1101 8086

Open Access Original Research

Examining the Relationship between Attitudes Towards Genomic Technology and Genetic Entrepreneurial Intention among Egyptian Healthcare Professionals

Received: 24 September 2023;  Published: 24 October 2023;  doi: 10.21926/obm.genet.2304199

Abstract

In the contemporary landscape, nurturing genomic entrepreneurial attitudes and intentions poses a substantial challenge for healthcare organizations. The present paper examines the factors affecting attitudes towards genomic technology and entrepreneurial intentions among Egyptian healthcare professionals. The study applied a quantitative approach and collected cross-sectional data from 276 health professionals using convenience sampling. Using structural equation modeling (SEM) through SmartPLS 4, the findings sug [...]

947 5976

Open Access Review

Mutation Breeding in Horticultural Plant Species

Received: 27 July 2023;  Published: 19 October 2023;  doi: 10.21926/obm.genet.2304198

Abstract

In the face of rapid population growth worldwide, humanity's need for plant and animal products is increasing. In this regard, the organizations in charge of production make production and consumption forecasts for the future and try to accelerate the work aimed at increasing production. There are various ways of increasing production. The first of these is the improvement of cultivation techniques, the expansion of irrigated agricultural areas, and the effective control of diseases and pests. The second is to find [...]

1460 13494

Open Access Review

Newborn Screening for Inborn Errors of Metabolism

Received: 14 June 2023;  Published: 18 October 2023;  doi: 10.21926/obm.genet.2304197

Abstract

Newborn screening can now detect more than 50 disorders, providing early and often life-saving treatment. Inborn errors of metabolism account for the majority of these disorders. This review will consider the more common metabolic disorders identified on newborn screening, including history, technique and management of these disorders.

1266 9889

Open Access Review

Role of Metabolic Nutrition in Newborn Screening and Inherited Metabolic Disorders

Received: 29 June 2023;  Published: 10 October 2023;  doi: 10.21926/obm.genet.2304196

Abstract

The expansion of newborn screening (NBS) encompasses a wide range of inherited metabolic disorders, including disorders of carbohydrate, lipid, and protein metabolism. Effective treatment of these disorders requires comprehensive nutrition and medical management. This review highlights the intricacies of medical nutrition therapy for several common metabolic disorders and underscores the crucial role of metabolic dietitians in managing these patients.

954 8410

Open Access Review

Whole Genome Sequencing in Era of Newborn Screening

Received: 20 April 2023;  Published: 05 October 2023;  doi: 10.21926/obm.genet.2304195

Abstract

After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical management and thereby potentially reduce mortality and morbidity. To date, parents and physicians have reported positive perceptions of using these genomic testing even when a diagnosis is not made. Remaining challenge [...]

1179 9159

Open Access Review

Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers

Received: 14 June 2023;  Published: 25 September 2023;  doi: 10.21926/obm.genet.2303194

Abstract

Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infancy through adulthood. As treatments have become available for many of these disorders, newborn screening has been adapted for early identification and pre-symptomatic treatment. This article will review some of the LSD that are now being added to newborn screening panels, includi [...]

984 9326

Open Access Research Article

Arginine and Histidine-modified Layered Double Hydroxides Facilitate Transgene Expression in Cancer Cells in Vitro

Received: 14 June 2023;  Published: 21 September 2023;  doi: 10.21926/obm.genet.2303193

Abstract

Layered double hydroxides (LDHs) have interesting properties and structures that enable them to carry nucleic acids, such as deoxyribonucleic acid (DNA). This study synthesized LDHs using the co-precipitation method and functionalized with the amino acids arginine (Arg) and histidine (His) to promote proton-sponge activity for enhanced transgene expression. The LDHs were characterized using X-ray diffraction (XRD), transmission electron microscopy (TEM), and nanoparticle tracking analysis (NTA). The interaction of [...]

1280 6574

Open Access Short Review

Normal and Aberrant Muscle Tissue Healing, Learning from Health and Disease

Received: 28 March 2023;  Published: 19 September 2023;  doi: 10.21926/obm.genet.2303192

Abstract

Human skeletal muscle exhibits remarkable plasticity, being responsive to chemical, mechanical, metabolic, and inflammatory stress. When the homeostatic disturbance is below a threshold of significant damage, the muscle responds by modifying metabolic activity, cell size/shape, and structure, thereby normalizing cellular function. If the disturbance causes significant damage, skeletal muscle, along with a precisely choreographed response from the immune system, can regenerate. Very few pathological conditions inhib [...]

849 6617

Open Access Review

Secondary Findings of Newborn Screening

Received: 16 April 2023;  Published: 31 August 2023;  doi: 10.21926/obm.genet.2303191

Abstract

The aim of newborn screening (NBS) program is to detect and manage treatable conditions in the early stages prior to the occurrence of long-term and irreversible sequalae. Phenylketonuria was the first screened disorder, but panels rapidly expanded after the introduction of tandem mass spectrometry technology into the program. Significant differences in the diseases screened by NBS were noted between programs in United States. Therefore, the recommended uniform screening panel was developed in 2006 to include a lis [...]

1263 7147

Open Access Review

Newborn Screening for Severe Combined Immunodeficiency

Received: 02 June 2023;  Published: 04 August 2023;  doi: 10.21926/obm.genet.2303190

Abstract

Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) has been successfully implemented in all 50 United States and Puerto Rico from 2008-2018. This life-saving screening tool has drastically improved overall survival of babies diagnosed with SCID from 74% to 96%. TREC is a stable, circular DNA molecule that is produced during the process of T-cell receptor (TCR) rearrangement and is the target of the quantitative PCR screen on Guthrie cards. Low TRECs are a marker of low naive T cell numbers. This ne [...]

1041 14239

Open Access Research Article

The Use of Transgenic Resistant Plums in Transgrafting Fails to Confer Plum Pox Virus Resistance in Prunus

Received: 16 January 2023;  Published: 25 July 2023;  doi: 10.21926/obm.genet.2303189

Abstract

In order to sustain productivity, growers are implementing fruit trees to provide plum pox virus (PPV) resistant varieties. Unfortunately, classical breeding approaches have failed to develop resistant varieties. RNA interference (RNAi) silencing, as an alternate strategy, has been shown to be an efficient approach to combat PPV disease (sharka). PPV resistance based on RNAi has been demonstrated in natural conditions for over 10 years. Experiments using graft inoculation in high-containment greenhouses show that s [...]

1018 166019

Open Access Review

Newborn Screening for Mucopolysaccharidosis Type I: Past, Present and Future

Received: 31 March 2023;  Published: 24 July 2023;  doi: 10.21926/obm.genet.2303188

Abstract

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase α-L-iduronidase. MPS I is characterized by a broad range of disease manifestations. This includes devastating neurocognitive and bone manifestations and a short life expectancy in severely affected MPS I patients. Neurocognitive manifestations are typically limited in more attenuated MPS I, but patients may still suffer from severe somatic and bone manifestations. Severe MPS I patients are primaril [...]

1150 8316

Open Access Research Article

An Efficient Method for Micropropagation of Red-List Herbaceous Plant Species (Hedysarum cretaceum)

Received: 11 November 2022;  Published: 20 July 2023;  doi: 10.21926/obm.genet.2303187

Abstract

Hedysarum cretaceum Fisch is a critically endangered herbaceous species with high ornamental and phytomeliorative properties; thus, it needs urgent conservation and protection methods to conserve. In the present study, an efficient method for microtonal propagation of H. cretaceum is developed. The seed sterilization was optimized as treatment with 96% alcohol (2 min) and burned (1 sec) through a burner flame. Murashige and Skoog (MS) medium with the addition of 0.5 mg/L 6-Benzylaminopurine (BAP) (shoots per explan [...]

955 6403

Open Access Research Article

An Evidence of Drug Repurposing for COVID-19 Pandemic Based on In silico Investigation from Phenolic Derivatives of Silybum Marianum Against SARS-Cov-2 Proteins

Received: 11 January 2023;  Published: 04 July 2023;  doi: 10.21926/obm.genet.2303186

Abstract

The outbreak of coronavirus disease-2019 (COVID-19) had a striking impact on the worldwide healthcare system within a very short period. The availability of a large number of clinical data on SARS-CoV-2, conventional precautionary majors, and treatment strategies with the existing therapeutic antiviral drug molecules also fails to control progression and disease transmission among the population. Hence, we implemented pharmacoinformatics approaches to facilitate the drug discovery by repurposing naturally available [...]

1017 7539

Open Access Review

A Narrative Review of the TP53 and Its Product the p53 Protein

Received: 02 January 2023;  Published: 03 July 2023;  doi: 10.21926/obm.genet.2303185

Abstract

The main purpose of this paper was to generate a narrative review related to the current knowledge of the TP53 gene and its product, the p53 protein. It was also attempted to elucidate the different p53 reactivation strategies of great interest, as various small molecules are being studied to reactivate mutant p53. PubMed and ScienceDirect were searched for p53, mutant p53, and wild-type p53 limited by the title filter through the end of 2022. The collected articles were studied, evaluated and summarized. In the sh [...]

2285 25410

Open Access Research Article

Relationship between Hearing Loss Risk Factors and Hearing Screening Results in Newborns: A Retrospective Cross-Sectional Study

Received: 02 January 2023;  Published: 29 June 2023;  doi: 10.21926/obm.genet.2302184

Abstract

Congenital hearing loss can have a long-term impact on children’s speech and communication abilities. Early detection and intervention of hearing loss are important in newborns. It is well known that there are several risk factors for hearing loss; however, the relationship between these risk factors and hearing screening tests remains uncertain in Iran. Therefore, this study aimed to explore the relationship between hearing loss risk factors and Automated Auditory Brainstem Response (AABR) and Transient-Evok [...]

1004 6517

Open Access Review

Mycobacterium Tubercular Mediated Inflammation and Lung Carcinogenesis: Connecting Links

Received: 03 September 2022;  Published: 21 June 2023;  doi: 10.21926/obm.genet.2302183

Abstract

Lung cancer is a leading cause of death among all the cancer worldwide and it has the highest occurrence and mortality rates. Mycobacterium tuberculosis (MTB) induced tuberculosis has been known as one of the risk factors for lung carcinogenesis. The exact mechanism of MTB is understood to date. Several research and epidemiological studies about the link between tuberculosis and lung cancer exist. It has been proposed that tuberculosis causes chronic inflammation, which increases the risk of lung cancer by creating [...]

938 7363

Open Access Review

Spinal Muscular Atrophy: An Overview

Received: 10 April 2023;  Published: 14 June 2023;  doi: 10.21926/obm.genet.2302182

Abstract

Spinal muscular atrophy, a leading cause of infant death, is a neurodegenerative disease classified categorically based on age of onset and achieved motor function. The standard method of diagnosis is through molecular genetic testing, ideally through the newborn screen to facilitate early diagnosis and treatment. There are 4 types of spinal muscular atrophy, each with varying degrees of symptoms based on the number of survival motor neurons. Current treatment options include gene therapy and supportive care. Futur [...]

998 8658

Open Access Research Article

Molecular and in Silico Analysis of MEFV Variants in Familial Mediterranean Fever Patients in Southwest Iran

Received: 11 October 2022;  Published: 12 May 2023;  doi: 10.21926/obm.genet.2302181

Abstract

Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in MEFV. These mutations can affect the dysregulation of inflammatory processes in the human body and lead to fever and pain in the chest and abdomen. Many known missense mutations in MEFV are linked to FMF disease. Mutations in MEFV in most cases are located on the short arm of chromosome 16 and can impair the function of the pyrin protein. In this research, we aimed to examine the entire exons of MEFV fo [...]

1080 8008

Open Access Research Article

Relationship between the Severity of Chest CT Scan Lesions, Arterial Oxygenation and Inflammatory Markers in High – Altitude Patients with Covid-19

Received: 01 December 2022;  Published: 19 April 2023;  doi: 10.21926/obm.genet.2302180

Abstract

This study aims to determine the relationship between the severity of lung tomographic compromise with arterial oxygenation and inflammatory markers in patients with COVID-19, and to evaluate the relationship between the CTSS tomographic severity score and the mortality risk in a high-altitude population. A retrospective, longitudinal study reviewed medical records between January and July of 2021 at the Daniel Alcides Carrión Regional Teaching Clinical Surgical Hospital in Huancayo. Categorical variables were anal [...]

889 6821

Open Access Original Research

Congenital Phenotypes and DMPK CTG Repeat Number in Mothers/Children with Myotonic Dystrophy Type 1

Received: 29 June 2022;  Published: 28 March 2023;  doi: 10.21926/obm.genet.2301179

Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease often resulting in more severe symptoms in affected children. The number of CTG repeats is reportedly related to congenital myotonic dystrophy 1 (CDM) severity. In this study, we aimed to clarify whether the number of CTG repeats can predict the severity of symptoms in children with CDM. This retrospective study examined 14 women with DM1 and their 14 children diagnosed with CDM. There were 11 CDM and 3 non-CDM patients. The correlation betwee [...]

1172 8478

Open Access Original Research

Chromosomal Abnormalities in Infertile Greek Men: A Single Institution’s Experience

Received: 21 October 2022;  Published: 08 February 2023;  doi: 10.21926/obm.genet.2301178

Abstract

Chromosomal abnormalities represent a significant genetic cause of male infertility because they impair spermatogenesis. The objective of the current study was to determine the prevalence and distribution of chromosomal abnormalities in Greek men with infertility. Four hundred eighty-eight infertile men (27 azoospermic, 168 with oligospermia -98 mild, 57 moderate, 13 severe- and 293 with normospermia) undergoing In Vitro Fertilization (IVF) between 2016-2022 were enrolled in the study. Thirty-eight fertile men were [...]

1315 8928

Open Access Technical Note

Validation of Fluorescence in Situ hybridization (FISH) Assay Using An Analyte-Specific Reagent in Detecting Aneuploidies of Chromosomes 13, 18, 21, X, and Y in Prenatal Diagnosis

Received: 01 October 2022;  Published: 06 February 2023;  doi: 10.21926/obm.genet.2301177

Abstract

Fluorescence In-Situ hybridization (FISH) is a sensitive and highly efficient technique commonly used in routine diagnostics. Most of these tests that use analyte-specific reagents are not approved by US Food and Drug Administration (FDA) but are developed by individual test laboratories. There is an emerging demand for prenatal diagnosis of aneuploidies by FISH. Since most of these assays are laboratory-developed tests, it is essential to validate them prior to their use in diagnosis. However, validation procedure [...]

1329 9782

Open Access Interview

An Interview with Dr. Yuri Shavrukov

Received: 09 January 2023;  Published: 10 January 2023;  doi: 10.21926/obm.genet.2301176

Abstract

An Interview with Dr. Yuri Shavrukov

738 5306

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2022

Received: 05 January 2023;  Published: 05 January 2023;  doi: 10.21926/obm.genet.2301175

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2022. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition direct [...]

685 5111

Open Access Interview

An Interview with Dr. Masahiro Sato

Received: 13 December 2022;  Published: 14 December 2022;  doi: 10.21926/obm.genet.2204174

Abstract

An Interview with Dr. Masahiro Sato

947 6057

Open Access Review

The Actual Situation of Covid-19 Infection at High Altitudes in Perú

Received: 03 August 2022;  Published: 12 December 2022;  doi: 10.21926/obm.genet.2204173

Abstract

This study aimed to reveal the evolution and characteristics of the COVID-19 pandemic in high-altitude areas of Perú. An observational, descriptive, retrospective and longitudinal study based on information from the Peruvian Ministry of Health, COVID-19 Situational Room, warning from the National Epidemiology Center, Prevention and Disease Control, and the Panamerican Health Organization (PAHO) was conducted to analyze the occurrence of the COVID-19 pandemic in Perú from the beginning of the pandemic until March 7, [...]

840 6623

Open Access Original Research

Cytohistopathological Correlation of 884 Cervical Pap Smears as Bethesda System 2014: A Hospital-Based Study

Received: 14 September 2022;  Published: 22 November 2022;  doi: 10.21926/obm.genet.2204172

Abstract

Cervical carcinoma is most common in Indian women of which Rural women are predominantly affected. The most common etiological factor is human papillomavirus (HPV ). The present study aims to assess the diagnostic accuracy, sensitivity, specificity, and different patterns of cervical Pap smears by comparing histological findings. The index study is a retrospective cross-sectional analytical study. The data was collected at the pathology department from May 2017 to December 2019 according to hospital ethical protoco [...]

1170 8469

Open Access Review

Abiotic Stress: Interplay Between ROS Production and Antioxidant Machinery, Signaling, and ROS Homeostasis

Received: 29 August 2022;  Published: 09 November 2022;  doi: 10.21926/obm.genet.2204171

Abstract

Climate change poses a substantial threat to global crop yield. Moreover, crop production is likely to reduce in the near future because of increasing average temperatures, widespread extreme climate events, and the loss of agricultural land. Abiotic stresses are the major factors limiting the growth and development of various crops worldwide. They cause the buildup of reactive oxygen species (ROS), which leads to cellular damage in a variety of subcellular compartments in plants. The metabolic rate of ROS is criti [...]

1369 10217

Open Access Review

Novel Insights into Epigenetic Control of Autophagy in Cancer

Received: 28 June 2022;  Published: 08 November 2022;  doi: 10.21926/obm.genet.2204170

Abstract

The autophagy mechanism recycles the damaged and long-standing macromolecular substrates and thus maintains cellular homeostatic and proteostatic conditions. Autophagy can be an unavoidable target in cancer therapy because its deregulation leads to cancer formation and progression. Cancer can be controlled by regulating autophagy at different genetic, epigenetic, and post-translational levels. Epigenetics refers to the heritable phenotypic changes that affect gene activity without changing the sequence. Modern biol [...]

1186 10326

Open Access Original Research

Comparison of Sputum and Oropharyngeal Microbiome Compositions in Patients with Non-Small Cell Lung Cancer

Received: 01 August 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204169

Abstract

Recent findings indicate that the microbiota is involved in the development of lung cancer by inducing inflammatory responses and generating genome damage. This study aimed to compare sputum microbiomes from the mouth and oropharynx in non-small cell lung carcinoma (NSCLC) patients. A second goal was to search for bacterial taxonomic units that behave differently in the microbiome of NSCLC patients and healthy subjects. In the study, the taxonomic composition of the sputum and oropharyngeal microbiomes of 23 male p [...]

976 6589

Open Access Case Report

Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature

Received: 30 June 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204168

Abstract

Double aneuploidy is the co-occurrence of aneuploidy of two different chromosomes within the same individual. Genomic imbalance associated with two aneuploidies in humans is associated with early lethality, and observation in live-born humans is rare. In isolation, trisomy of chromosomes 13, 18, 21, X, and Y may be better tolerated, whereas monosomy of X is the only such type of aberration that may be compatible with life. It is hypothesized that two successive malsegregation events must occur in early development [...]

1192 11845

Open Access Research Article

“Not Private at All:” Comparative Perspectives on Privacy of Genomic Data, Family History Data, Health-Related Data, and Other Personal Data

Received: 09 August 2022;  Published: 31 October 2022;  doi: 10.21926/obm.genet.2204167

Abstract

People choose how and if to generate and disclose not just personal genomic data, but also multiple other types of personal health and non-health related data. To contextualize choices about genetic testing and genetic data disclosure, we explored perspectives of genomic data privacy and disclosure compared to other types of data. We conducted a qualitative focus group study with adult members of an integrated U.S. health system, using administrative data to stratify our sample by age and by race/ethnicity. Discuss [...]

1357 8285

Open Access Research Article

Cytoplasmic Microinjection of piggyBac Transposase mRNA and Transposon Vectors for Efficient In Vitro Production of Transgenic Porcine Parthenotes

Received: 07 July 2022;  Published: 29 September 2022;  doi: 10.21926/obm.genet.2203166

Abstract

The efficient production of transgenic (Tg) piglets has remained a challenge in the field of domestic animal studies. Unlike mice, the pronuclei of pig zygotes cannot be easily studied because of the abundance of lipid droplets. Therefore, the zygotes must be briefly centrifuged before pronuclear injection (PNI) to move the lipid droplets to the periphery of the zygote for PNI-mediated production of Tg piglets. However, this procedure is temporal because lipid droplets return to the original space during PNI, hampe [...]

1488 11248

Open Access Review

Newborn Screening in Gaucher Disease: A Bright and Complicated Future

Received: 20 July 2022;  Published: 26 September 2022;  doi: 10.21926/obm.genet.2203165

Abstract

Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the GBA1 gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C 3.2.1.45). Clinical manifestations are heterogenous and can include splenomegaly, anemia, and neurological impairments in the case of neuronopathic Gaucher disease types 2 and 3. Newborn screening, arguably the most important public health initiative to date, has been regularly conducted on n [...]

1263 11108

Open Access Technical Note

Successive Detection of Telomerase by IHC and Assessment of Telomere Length by Q-FISH in Paucicellular Cumulus Samples from Cumulus-Oocyte Complexes Obtained in Assisted Reproduction Programs

Received: 13 May 2022;  Published: 23 September 2022;  doi: 10.21926/obm.genet.2203164

Abstract

This paper suggests an approach for the use of a single paucicellular histological sample to investigate two characteristics indicative of the cell’s functional potential: 1) the content of telomerase reverse transcriptase (TERT) and 2) the telomere length. An algorithm has been suggested for the successive detection of the catalytic telomerase subunit with immunohistochemical staining and assessment of telomere length with Q-FISH on the same set of cells. The described approach uses three incontestable advantages [...]

1092 7124

Open Access Opinion

High-Altitude Pulmonary Edema in the Context of COVID-19

Received: 18 July 2022;  Published: 09 September 2022;  doi: 10.21926/obm.genet.2203163

Abstract

High-altitude pulmonary edema (HAPE) and COVID-19 pneumonia are different diseases, but HAPE-susceptible individuals (whose susceptibility often has a genetic basis) can also suffer from severe COVID-19. We hypothesized that certain pathogenic mechanisms might overlap if such a coincidence occurs, since these patients could react to alveolar hypoxia with a more intense and heterogeneously distributed pulmonary vasoconstriction than non-HAPE-susceptible patients. It is also not known how future altitude acclimatizat [...]

1126 9783

Open Access Review

Trisomy 14 Mosaicism Including Concomitant Uniparental Disomy: Population Frequency, Cytogenetic Profile, Sex Ratio, Maternal Age and Obstetric History

Received: 02 May 2022;  Published: 05 September 2022;  doi: 10.21926/obm.genet.2203162

Abstract

Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the rarity of the disease and its predominance among female carriers. This was the first systematic review of published cases of mosaic T14 that addressed some epidemiological aspec [...]

1647 13175

Open Access Review

Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

Received: 04 May 2022;  Published: 02 August 2022;  doi: 10.21926/obm.genet.2203161

Abstract

Galactosemia is a group of hereditary disorders of galactose metabolism. Newborn screening for galactosemia type I is mandatory in all states in the US since timely intervention can prevent life-threatening sequela. The biochemical basis, clinical presentation, and potential treatment options for different types of galactosemia are described. This review has a focus on the screening methodologies, including the principle of the assay, the transition from the initial bacteria inhibition test to the modern fluorometr [...]

1675 18045

Open Access Interview

An Interview with Dr. Mark Stoneking

Received: 07 July 2022;  Published: 13 July 2022;  doi: 10.21926/obm.genet.2203160

868 6859

Open Access Original Research

First Cytogenomic Characterization of the Murine Testicular Tumor Cell Line I-10

Received: 25 March 2022;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202159

Abstract

After being established in 1967, the commercially available murine Leydig cell tumor line I-10 has been used in almost 50 published studies. I-10 has not been characterized, either at the chromosomal/ cytogenetic level or the genetic level, similar to many other murine tumor cell lines. In this study, we performed molecular karyotyping and multicolor banding-based molecular cytogenetics. A slightly hyperdiploid karyotype with 43 chromosomes was described. The main aberrations comprised several unbalanced translocat [...]

1116 8084

Open Access Research Article

Molecular Genetic Study on VNTR-polymorphism of Two Cytokine Genes Antagonist of the Receptor of Interleukin 1 (rs2234663) and Interleukin 4 (rs8179190) Associated with Dental Caries in Children

Received: 24 December 2021;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202158

Abstract

In this study, we investigated VNTR polymorphisms in intron 2 of the IL1RN gene (rs2234663) and intron 3 of the IL4 gene (rs8179190) related to the development of caries in school children (N = 196) with mixed bite dentition from Krasnodarskii Krai. The genotypes A1/A1 and L/L (L-"long" alleles) (rs2234663) provided resistance to the most intensive form of dental caries. The groups of children with DFC (decompensated form of caries) were significantly different from the pooled group SFC (subcompensated form of cari [...]

1079 8575

Open Access Original Research

Application of the FISH Method for Analyzing Chromosome Segregation Patterns in Preimplantation Embryos from Robertsonian Translocation Carriers

Received: 28 March 2022;  Published: 22 June 2022;  doi: 10.21926/obm.genet.2202157

Abstract

Robertsonian translocations (RTs) are very common balanced structural chromosome rearrangements in humans. Due to alterations in the chromosome segregation pattern and the formation of unbalanced gametes and embryos, the carriers of RTs have a significant risk of reproductive failure. For over 30 years, fluorescent in situ hybridization (FISH) has been used for preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) in carriers of RTs. The data obtained by performing FISH for PGT-SR can be [...]

1481 10984

Open Access Review

46,XX/46,XY Chimerism & Human Sexual Development

Received: 23 April 2022;  Published: 15 June 2022;  doi: 10.21926/obm.genet.2202156

Abstract

The term chimera refers to an organism with cell lines from two or more distinct zygotes. Human chimerism may occur naturally or artificially. Although rare, advancements in genetics and genomics have resulted in the identification of additional natural human chimeras. Three forms of naturally occurring chimerism have been documented in humans: blood group chimerism, microchimerism, and fusion chimerism. Fusion chimerism may occur through several means. Sex-chromosome discordant chimerism refers to individuals with [...]

3210 43157

Open Access Original Research

Anti-cancer Drug Susceptibility of Breast Cancer Cells Incubated on Electrospun Polymeric Fiber Substrates

Received: 01 March 2022;  Published: 14 June 2022;  doi: 10.21926/obm.genet.2202155

Abstract

In this study, we examined the effect of a combination of surface topographies (fiber alignments) and different stiffness of poly(L-lactic acid) (PLLA) substrates on the direct relationship between anti-cancer drug (CDDP) sensitivity for MDA-MB-231 cells and mesenchymal properties under both normal and hypoxic conditions. In addition, we studied the induction of epithelial–mesenchymal transition (EMT). The CDDP treatment under hypoxia indicated poor adhesion of MDA-MB-231 cells as well as significant repression of [...]

1561 8254

Open Access Review

Mechanisms and Approaches for Salt Tolerance in Turmeric: A Breeding Perspective

Received: 22 March 2022;  Published: 23 May 2022;  doi: 10.21926/obm.genet.2202154

Abstract

India is home to several medicinal herbs including turmeric. Turmeric is one of the major produces of India, primarily due to its unique and valuable medicinal and therapeutic properties. However, the growth and yield of turmeric are greatly affected by salt stress in certain parts of the country, especially those near water bodies where significant yield losses have been reported. To mitigate these losses caused by salt stress, certain plant breeding methods, transgenic approaches, and candidate genes along with i [...]

1668 13165

Open Access Review

From Ovarian Development to Folliculogenesis: Essential Networks Sustaining the Ovarian Reserve

Received: 25 August 2021;  Published: 26 April 2022;  doi: 10.21926/obm.genet.2202153

Abstract

In the last four decades, transgenic and knockout mouse models have helped to understand the mechanisms of mammalian sex determination, germ cell development, and adult gonad functions. We have gained crucial insights into molecular factors and pathways of the cells generating either the supporting gonadal cells or germ cells of both sexes. In this review, we highlighted some of the main gene networks and regulatory mechanisms involved in the plasticity of sex-determining pathways that help to establish a functiona [...]

1117 9697

Open Access Original Research

The Identification 5S nrDNA Unit Classes in Genera of Plants and Selected Non-Vertebrate Animals and Their Potential for the Study of Species Relationships

Received: 07 January 2022;  Published: 24 April 2022;  doi: 10.21926/obm.genet.2202152

Abstract

We have investigated the utility of the 5S nrDNA, a conserved, multicopy gene family organized into tandem repeats as a tool for genetic analyses in a wide variety of genera. Previous work in the Triticeae (Poaceae) demonstrated that the prior identification of unit classes based upon the 5S nrDNA NTS, greatly facilitates analysis. We investigated the potential of defining unit classes in other plant genera and several animal genera as a step towards future phylogenetic analyses. Our results demonstrate that in in [...]

1127 7573

Open Access Research Article

Electroporation-Based Non-Viral Gene Delivery to Adipose Tissue in Mice

Received: 21 January 2022;  Published: 11 April 2022;  doi: 10.21926/obm.genet.2202151

Abstract

Adipose tissue is distributed throughout the body as fat depots. The amount of adipose tissue increases with age. In mice, epididymal fat depots in males and gonadal fat depots in females are associated with the reproductive system. Regarding fat depots in females, the adipose tissue under the skin can be easily exposed via surgery when the ovary, oviduct, and uterus are pulled out and exposed. As handling adipose tissue is relatively easy, adipocytes might be good targets for genetic manipulation (including gene d [...]

2068 19396

Open Access Review

Molecular Marker Analysis of Genetic Diversity in Maize: A Review

Received: 25 July 2021;  Published: 21 March 2022;  doi: 10.21926/obm.genet.2201150

Abstract

Maize is consumed as a food and used as an industrial product in the form of starch, pharmaceuticals, alcoholic beverages, oil, cosmetics, and textiles. In ancient times, landraces were more popular due to the presence of high genetic variability, resistance to biotic and abiotic factors, and the heterogeneous nature of maize; however, it has been replaced by improved and uniform cultivars with a higher yield. Modern maize has more homogeneity that enhances its vulnerability to biotic and abiotic stresses. Thus, we [...]

3712 24680

Open Access Original Research

The Regulation of Non-Invasive Prenatal Testing (NIPT) in France: Continuity and Changes in the Development of Prenatal Testing

Received: 02 September 2021;  Published: 25 February 2022;  doi: 10.21926/obm.genet.2201149

Abstract

This article examines the regulation of the screening of fetal abnormalities in France before and after the implementation of the new technique of non-invasive prenatal testing (NIPT) in 2013. In addition, this article evaluates the effectiveness of the regulatory framework in addressing the ethical and social issues raised by this technique from a legal and sociological perspective. The analysis reveals that the regulations, consistent with that applied to other prenatal screening techniques, fail to take proper a [...]

1507 24293

Open Access Interview

An Interview with Dr. Joep Geraedts

Received: 17 February 2022;  Published: 22 February 2022;  doi: 10.21926/obm.genet.2201148

859 6499

Open Access Research Article

Correlation of Mutational Signatures in Cancer Genes with General Signatures

Received: 07 December 2021;  Published: 13 February 2022;  doi: 10.21926/obm.genet.2201147

Abstract

The occurrence of various mutation patterns, such as changes in the DNA sequence and the loss of some sequences, is called a “mutational signature,” and they represent the molecular fingerprints that exist for the type of mutation occurring in a specific gene. Our study elucidates the correlations of mutational signatures in frequently mutated cancer genes with general mutational signatures previously found for different cancers. We hypothesized that the top twenty most frequently mutated genes (MFMG) of a cancer t [...]

1149 9508

Open Access Short Communication

Newborn Screening in Latin America: A Window on the Evolution of Health Policy

Received: 22 August 2021;  Published: 21 January 2022;  doi: 10.21926/obm.genet.2201146

Abstract

Investigating the historical origins of a well-accepted health program across a region, such as newborn screening in Latin America, has the potential to reveal the role of historically-specific drivers in shaping national health policy. We reviewed published reports on NBS in Latin America and interviewed newborn screening experts with experience in the region. We found trends suggesting that the decrease in infant mortality may be a prerequisite to investing in nationwide screening for rarer conditions. We also no [...]

1281 10636

Open Access Review

Anatomical Variation, Hominins, Species, and Self-Domestication

Received: 19 October 2021;  Published: 11 January 2022;  doi: 10.21926/obm.genet.2201145

Abstract

The evolution of hominins, members of the zoological tribe Hominini, has been a much-studied topic, and the construction of phylogenetic trees has been the key method in molecular evolutionary studies. How scientists determine the phylogenetic trees are governed by the assumptions they place on the construction of similarities and differences in morphological traits, the differences in the number of base pairs in the genomes, and the number of similar gene clusters that code for traits (haplotypes) or are error seq [...]

1577 12049

Open Access Editorial

Acknowledgement to Reviewers of OBM Genetics in 2021

Received: 05 January 2022;  Published: 06 January 2022;  doi: 10.21926/obm.genet.2201144

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2021. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition direct [...]

885 6209

Open Access Perspective

Understanding the Regulation of Transcription in Mental Illness

Received: 17 June 2021;  Published: 17 November 2021;  doi: 10.21926/obm.genet.2104143

Abstract

Advances in clinical psychiatry have been less than hoped for relative to the achievements in neuroscience. However, developments in neuromodulation and psychedelic therapy are promising. The efficacy of such treatments and canonical pharmacotherapies benefit from genetics and personalized medicine. Moreover, recent studies on the perturbation of transcription, including chromatin remodeling, in mental illness emphasized the importance of single-cell qPCR as an investigatory method that bolstered psychiatry. This t [...]

1190 8472

Open Access Original Research

Would I have Wanted to Know? A Qualitative Exploration of Women’s Attitudes, Beliefs and Concerns about Non-Invasive Prenatal Testing for de novo Genetic Conditions after having a Child with a de novo Genetic Disorder

Received: 07 September 2021;  Published: 03 November 2021;  doi: 10.21926/obm.genet.2104142

Abstract

Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by parents in a population screening model is unknown. We used a phenomenological approach to explore retrospectively whether mothers of children with single gene or chromosomal disorders would have wanted to know about their child’ [...]

1430 10394

Open Access Original Research

Unexpected Associations between the Number of FRAXE Repeats in Boys and Evidence of Diabetes in Their Mothers and Maternal Grandmothers

Received: 17 May 2021;  Published: 29 October 2021;  doi: 10.21926/obm.genet.2104141

Abstract

The FRAXE section of the FMR2 gene, located on the X chromosome, contains varying numbers of trinucleotide repeats; boys with over 200 repeats tend to have mild cognitive impairments, though this is rare. Little is known, however, concerning the phenotypes of individuals with smaller numbers of repeats. Here we answer the research question as to whether the health of ancestors of boys from whom the relevant X chromosome was inherited differed in any way according to the number of FRAXE repeats. Numbers of FRAXE rep [...]

1408 9872

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