by Carine Vassy  , Laurence Brunet  and Christine Noiville

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

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 [...]

by Özlem Özbek

Received: 16 June 2024;  Published: 12 December 2024;  doi: 10.21926/obm.genet.2404274

Genetic diversity allows plants to adapt to changing environmental conditions to survive and increases their ability to respond to yield, production, pests and diseases. The application of molecular markers developed due to developments in biochemistry, molecular biology, and plant technology has shed light on plant genetics and breeding studies and produced an enormous amount of knowledge. The theoretical knowledge will guide in determining the scope, amount, and distribution of different aspects of genetic divers [...]

by Georgianne L. Arnold

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

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.

by Rafail Nikolaos Tasakis  , F. Nina Papavasiliou  and Rita Shaknovich

Received: 03 December 2018;  Published: 08 April 2019;  doi: 10.21926/obm.genet.1902072

Cancer development and progression is strongly associated with somatic mutations. From oncogenic hits that initiate the primary tumor formation to metastasis, the tumor mutational burden (TMB) plays a prominent role in the disease progression for the vast majority of cancer types. Not only are heterogeneous mutational loads or genetic heterogeneity causal to transcriptomic and proteomic discrepancies and to phenotypic diversity between individuals, they are also between tumor cells. But in addition to mutations, a [...]

by Maria Gladysheva-Azgari  , Natalia Slobodova  , Eugenia Boulygina  , Svetlana Tsygankova  , Fedor Sharko  and Irina Mitrofanova

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

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 [...]

by Paul Scriven

Received: 29 October 2018;  Published: 22 January 2019;  doi: 10.21926/obm.genet.1901061

United Kingdom guidelines recommend single embryo transfer (fresh or cryopreserved) in the first full assisted conception cycle for women under 40 years most at risk of having twins. Based on a recent randomized clinical trial for women aged 36 to 40 years, the hypothetical effect of preimplantation genetic testing for chromosome aneuploidy was extrapolated to single transfer of every morphologically transferable embryo available from a full cycle. Offering testing to every woman seems likely to result in fewer cli [...]

by Rico Miyagasako  , Hansol Jin  , Satoshi Watanabe  , Kazuchika Miyoshi  , Emi Inada  and Masahiro Sato

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

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 [...]

by Parisa Zeynali  , Hossein Teimouri  , Seyed Mohammad Ali Hashemi  , Arefeh Ebrahimian  , Seyed Nooreddin Faraji  , Shahriar Sakhaei  and Emad Behboudi

Received: 21 June 2024;  Published: 20 November 2024;  doi: 10.21926/obm.genet.2404272

Microbial and viral pathogens have emerged as key contributors to cancer development. Research conducted in the last twenty years has significantly enhanced our comprehension of the cancer-causing capabilities of infectious agents. An illustrative instance is gastric cancer (GC), which is closely associated with Helicobacter pylori (H. pylori) and Epstein-Barr virus (EBV) infections, with approximately 90% of non-cardia GC cases attributed to H. pylori infection and around 10% linked to EBV. Despite significant res [...]

by Jean Golding  , Rosie Clark  , Steven Gregory  , Genette Ellis  , Matthew Suderman  , Yasmin Iles-Caven  and Marcus E. Pembrey

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

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 [...]

by Aleeha Muzaffar  , Usman Arif  , Faheem Akram  , Fatima Batool  , Sameera Hassan  and Bushra Rashid

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

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 [...]

by Daniel Navon  and Gareth Thomas

Received: 15 July 2021;  Published: 09 October 2021;  doi: 10.21926/obm.genet.2104140

In this article, we discuss the radical uncertainties unleashed by expanded prenatal genetics. We show how we are now routinely screening fetuses in the absence of two essential sorts of information. At the population level, we do not have sound, unbiased data about the prevalence, penetrance, and clinical variability of most mutations. At the level of the proband, it is often too soon to discern relevant information about the fetus’ phenotype. First, we outline the longstanding ethical objections to newborn screen [...]

by Karen Sermon

Received: 11 August 2017;  Published: 26 October 2017;  doi: 10.21926/obm.genet.1704009

The main aim of PGS has always been to improve IVF outcome, especially in patient groups assumed to have higher rates of chromosomally abnormal embryos, such as patients of advanced maternal age. In that sense, PGS is quite different from other types of screening as discussed in other papers in this issue.Today it bears no doubt that blastocysts found to be uniformly aneuploid in a biopsy will fail to implant, or worse, will implant and lead to a pregnancy and birth carrying a major chromosomal abnormality, such as [...]

by Sarah Long  , Roanna Lobo  , Peter O'Leary  and Jan E. Dickinson

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

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’ [...]

by Ahmad R. Alsayed  and Andi Dian Permana

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

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 [...]

by Michelle Lynne LaBonte

Received: 29 July 2021;  Published: 29 September 2021;  doi: 10.21926/obm.genet.2103139

This article uses cystic fibrosis as a case study to examine how physicians and scientists have navigated uncertainty following newborn screening. Despite the many benefits of newborn screening, including earlier diagnosis, therapeutic intervention, and a reduced diagnostic odyssey, this public health approach also comes with challenges. For example, physicians began to document infants with indeterminate diagnoses - those with a positive screen who did not clearly fit into the cystic fibrosis or “normal” categorie [...]

by Donny Japly Pugesehan  , Vernando Yanry Lameky  and Agustinus Mathinus Luther Batlajery

Received: 12 June 2024;  Published: 21 August 2024;  doi: 10.21926/obm.genet.2403258

"Case Studies in the Ethics of Assisted Reproduction" explores the moral and ethical implications of assisted reproductive technologies (ART), such as in vitro fertilization (IVF), surrogacy, and genetic screening. These findings outline ethical dilemmas, including the importance of informed consent, and highlight a multidisciplinary approach involving law, bioethics, reproductive endocrinology, and reproductive biology. Using case studies, the findings address ethical challenges in ART practice, such as the transf [...]

by Rositsa Hristova  , Dimka Georgieva  , Albena Staynova  and Valeria Hadjidekova

Received: 14 August 2018;  Published: 25 November 2018;  doi: 10.21926/obm.genet.1804051

Background: A radiation accident occurred on 14 June 2011 in an industrial facility in Bulgaria with a cobalt source (137 TBq) that was used to sterilize equipment. Five people received doses exceeding 1Gy, which led to the development of acute radiation syndrome. Biological dosimetry based on dicentric analysis was performed and the average acute whole-body doses estimated for the five patients ranged from 1.2 to 5.6 Gy. The purpose of this study was to evaluate induced chromosome aberrations in vivo four months af [...]

by Elisavet Kouvidi  , Haralambia Tsarouha  , Christina Katsidi  , Sophia Zachaki  , Nikolaos Nitsos  , Sofia Samourgianidi  , Amelia Pantou  , Lazaros Leandros  , Emmanouel Kanavakis  and Ariadni Mavrou

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

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 [...]

by Seria Tsan  , Stefanie Kankel  , Niklas Padutsch  , Luisa Person  , Monika Ziegler  , Ahmed Al-Rikabi  , Anja Weise  , Kristin Mrasek  and Thomas Liehr

Received: 16 April 2021;  Published: 25 August 2021;  doi: 10.21926/obm.genet.2103135

Cryptic balanced chromosomal aberrations can be an underlying cause of infertility. In 2003 Cockwell and coworkers highlighted the relevance of euchromatic pericentric regions of acrocentric chromosomes that may be a yet ignored genomic region hosting cryptic rearrangements. Here we offer the first follow-up study to further explore this idea. Two specific molecular cytogenetic probe sets were established to elucidate such cryptic rearrangements together with chromosomal heteromorphisms of acrocentric centromeres. [...]

by Joep Geraedts

Received: 13 April 2017;  Published: 26 April 2017;  doi: 10.21926/obm.genet.1702003

Mark Stoneking, who is a member of the Editorial Board of OBM Genetics has written a textbook on molecular anthropology

by Maddaloni Valeria  , D'Arco Daniela  , Morano Francesca  , Pepe Nicola  and Atripaldi Luigi

Received: 30 May 2018;  Published: 12 November 2018;  doi: 10.21926/obm.genet.1804048

Infectious diseases are one of the most important causes of morbidity and mortality around the world and have a substantial impact on the health of communities. These diseases are caused by pathogenic microorganisms, such as bacteria, viruses, parasites and fungi. The antibiotics that are currently available are generally considered to be safe and well-tolerated. However antimicrobial resistance is an increasingly serious concern in the treatment of infectious diseases. An understanding of epigenetics now contribut [...]

by Mark Stoneking

Received: 10 April 2017;  Published: 02 June 2017;  doi: 10.21926/obm.genet.1702004

none, this is an opinion piece

by Vidhula R Ahire  , Amit Kumar  , Sushma Bhosle  and Kaushala Prasad Mishra

Received: 22 September 2020;  Published: 14 May 2021;  doi: 10.21926/obm.genet.2102129

Ellagic acid (EA) is a polyphenol found in grapes, pomegranates, walnuts, etc. exhibits anti-cancer properties. The current study was conducted to understand the radiosensitizing role of EA on HeLa cells. Monotherapy of EA and radiation was initially studied on HeLa cells. The addition of EA before the radiation treatment subsequently made DNA more susceptible to damage thereby developing DNA beaks, which are known to be lethal for cell survival. This was evaluated by performing comet and γ-foci formation ass [...]

by Nora B. Henrikson  , Paula R. Blasi  , Marlaine Figueroa Gray  , Lorella Palazzo  , Aaron Scrol  and Stephanie M. Fullerton

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

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 [...]

by Jaclyn B. Murry  and Ying S. Zou

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

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 [...]

by Alison Schmidt  and Anthony Shanks

Received: 16 June 2021;  Published: 27 September 2021;  doi: 10.21926/obm.genet.2103138

Cell-free DNA has emerged as the most reliable, non-invasive prenatal screening tool for fetal aneuploidies. It has come to replace the previously widely used quadruple screen offered in the second trimester of pregnancy. This change comes with improved detection for aneuploidy but also presents potential gaps in prenatal diagnosis including detection of open fetal defects and emerging data on prediction of adverse pregnancy outcomes. This review article provides a historical summary of the quadruple marker screen [...]

by Emory Ryan  , Tiffany Jong  and Ellen Sidransky

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

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 [...]

by Hana Alharbi  and Miao He

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

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 [...]

by Galal Khamis  , Jun Chi  and Qingshun Zhao

Received: 12 January 2024;  Published: 18 June 2024;  doi: 10.21926/obm.genet.2402244

Tomato (Solanum lycopersicum), a family of Solanaceae, is an annual crop grown in fields and greenhouses. Tomato is the fourth-largest agricultural crop in the world, with a market value of more than $50 billion. Numerous attempts were conducted on the tomato for further improvement via in vitro regeneration and transformation. This study aims to establish in vitro multiplication, transformation, and gene editing systems in tomatoes by using cotyledon explants. Cotyledon explants were placed on the MS medium suppor [...]

by Bahar Onaran Acar  , Hakan Şenarısoy  and Erhan Keyvan

Received: 31 July 2024;  Published: 05 January 2025;  doi: 10.21926/obm.genet.2501278

Antimicrobial resistance is one of the most significant threats to our present and future. Recently, it has been suggested that antibiotic-resistant microorganisms also exhibit resistance to heavy metals and disinfectants, and these resistance profiles may interact with each other. Microorganisms can be exposed to heavy metals and disinfectants in different ways in various environments. They are especially likely to be exposed to quaternary ammonium compounds used in the food industry or heavy metals due to tap wat [...]

by Sana Parveen  , Suroor Fatima Rizvi  , Adria Hasan  , Uzma Afaq  and Snober S. Mir

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

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 [...]

by Jeffrey P. Brosco  , Talia Holzman Castellands  and Adriane Gelpi

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

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 [...]

by Nirasha Nundkumar  , Sooboo Singh  and Moganavelli Singh

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

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 [...]

by Mahintaj Dara  , Negin Shafieipour  , Mahsa Saffar  , Mehdi Dianatpour  , Seyed-Mohammad-Bagher Tabei  and Seyed-Alireza Dastgheib

Received: 18 November 2024;  Published: 01 April 2025;  doi: 10.21926/obm.genet.2502289

Since the initial discovery of the CRISPR system in bacteria as an adaptive immune system, a deeper understanding of CRISPR structure and function has made it possible to perform gene editing, gene therapy, and revolutionize the diagnostic field. One of the exciting applications of the CRISPR-Cas system is used as a tool for the rapid diagnosis of infectious diseases and their treatment and the prevention of infection spread among people. The CRISPR-based diagnostic system could be the next-generation standard beca [...]

by Masahiro Sato  , Emi Inada  , Satoshi Watanabe  , Issei Saitoh  , Naoko Kubota  , Yoko Iwase  , Kazunori Morohoshi  and Shingo Nakamura

Received: 31 August 2025;  Published: 24 November 2025;  doi: 10.21926/obm.genet.2504317

An episomal vector is a plasmid- or virus-based vector that is present extrachromosomally in cells after transfection. Although it disappears during cell proliferation, it can exist in non-dividing cells, such as neuronal and muscular cells, and continues to express a gene of interest (GOI). Such episomal vectors are usually based on sequences from DNA viruses such as bovine papillomavirus 1 and Epstein-Barr virus. When cells are transfected with an episomal vector harboring a drug-resistance gene and subsequently [...]

by Beom-Jin Lee  , Manal Hadi Ghaffoori Kanaan  , Sura Saad Abdullah  and Abdolmajid Ghasemian

Received: 04 July 2025;  Published: 18 August 2025;  doi: 10.21926/obm.genet.2503308

Cancer continues to be one of the leading causes of global death, and conventional therapies have limited efficacy because of their toxicity, drug resistance, and off-target effects. Plant-derived nanoparticles (PDNPs) have emerged as suitable alternatives as they have biocompatibility, biodegradability, and multifunctional therapy. In this review, we discussed the recent advancements in PDNPs for cancer therapy, including the green synthesis of PDNPs using phytochemical (flavonoids, terpenoids) reducing and cappin [...]

by Christin Deal  , Kara Coffey  and Hey Chong

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

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 [...]

by Marcel Mannens

Received: 24 April 2019;  Published: 30 April 2019;  doi: 10.21926/obm.genet.1902075

none

by Solaf Alaakel  and Youssef. AL-Ammouri

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

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 [...]

by Shibani Kanungo  , Samantha A. Vergano  , Thomas Clark  , Rami Madani  , Melissa Schott  , Kira Couch  , Rubie Villela  and Natalie White

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

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 [...]

by Nuchanart Suntornnont  , Ammaraluk Kovavisarach  and Rachaneekorn Tammachote

Received: 05 July 2024;  Published: 06 January 2025;  doi: 10.21926/obm.genet.2501279

Keratinocytes are particularly vulnerable to oxidative stress due to their function as the primary natural protective barrier exposed to chemicals, rays, and pollution to stimulate the formation of free radicals in the body. Two factors of interest correlate with cellular senescence under oxidative stress. These include regulating antioxidant synthesis, which maintains free-radical homeostasis through the Nrf2 gene, and the prevention of telomere shortening, which involves the collaboration of human telomerase gene [...]

by Sopnil Ahmed Jahin  , Biswajit Das  , Adrita Abdullah  , Sadia Akter  , Mohammad Abu Kawsar Sarower Siddique  and Mohammad Anwar Hossain

Received: 02 August 2024;  Published: 01 November 2024;  doi: 10.21926/obm.genet.2404270

Drought and phosphorus (P) deficiency stress are two significant natural abiotic stresses restricting rice growth and yield worldwide. Developing rice varieties tolerant to drought and low P stress is crucial for sustainable agricultural production. To address these issues, two separate experiments were conducted using selected advanced rice breeding lines to study the impact of drought and low P stress on yield-attributing traits. The first experiment evaluated the drought stress tolerance of five advanced lines ( [...]

by Tkachuk Elena Anatolyevna  and Kurenkova Galina Vladimirovna

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

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 [...]

by Ezgi Cabuk Sahin  , Yildiz Aydin  and Ahu Altinkut Uncuoglu

Received: 17 May 2024;  Published: 02 September 2024;  doi: 10.21926/obm.genet.2403260

Molecular markers play a crucial role in accelerating crop production for sustainable agriculture by identifying resistant traits and enhancing genetic diversity. In this review, we examine the impact of the molecular markers on advancing our understanding of stress tolerance mechanisms in plants, addressing the pressing imperative to bolster global food production to meet the escalating demands of the growing population. Additionally, the application of molecular markers to evaluate the genetic accuracy of plants [...]

by Junhyeong T. Park  , Junseong A. Park  , Igor F. Tsigelny  and Valentina L. Kouznetsova

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

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 [...]

by Sydney Rudowski  , Cornelius F. Boerkoel  , Miao He  and Shibani Kanungo

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

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 [...]

by Steven D. Ross  , Sydney Rudowski  and Shibani Kanungo

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

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 [...]

by Mahintaj Dara  , Mehdi Dianatpour  , Negar Azarpira  and Nader Tanideh

Received: 04 September 2024;  Published: 08 January 2025;  doi: 10.21926/obm.genet.2501280

Gene therapy, a groundbreaking method for addressing genetic mutations, includes strategies such as gene repair, replacement, inactivation, or the introduction of therapeutic genes, circumventing traditional surgical or pharmacological approaches. Delivery through viral or non-viral vectors presents trade-offs in efficiency and immune response. Recent gene-editing technologies like ZFNs, TALENs, and CRISPR facilitate precise genome modifications by inducing targeted double-strand breaks, with CRISPR/Cas9 recognized [...]

by Penko Spetsov  and Nadia Daskalova

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

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 [...]

by Sandra D.K. Kingma  , An I. Jonckheere  , Laurence Roosens  and François Eyskens

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

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 [...]

by Kosuke Shigematsu  , Yukiko Mikami  , Mamiko Shinsaka  , Masanobu Kinoshita  and Yasushi Takai

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

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 [...]

by Oyovwi Mega Obukohwo  , Peggy Ejiro Ohwin  , Rotu Arientare Rume  , Olowe Gideon Temitope  , Oyelere Abosede Oreoluwa  and Adelowo Joy Motunrayo

Received: 19 February 2024;  Published: 05 July 2024;  doi: 10.21926/obm.genet.2403249

Chromosome abnormalities are a leading cause of pregnancy loss, developmental delays, and birth defects. These abnormalities arise from errors in chromosome structure (breakage) or number (missegregation) during cell division. Understanding the causes of these errors is crucial for developing effective preventive strategies to improve reproductive health. This paper aims to review the known causes of chromosome breakage and mis-segregation, emphasizing their impact on pregnancy and newborn health. It further explor [...]

by Laura Roche  , Traci Flynn  and Linda Campbell

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

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 [...]

by Shaymaa Azawi  , Lisa-Marie Barf  , Thomas Liehr  , Stefanie Kankel  and Martina Rincic

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

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 [...]

by Florence Naillat

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

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 [...]

by Anju Khairwa

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

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 [...]

by Morkoss M. Fakhry  , Asmaa R. Abdel-Hamed  , Noha M. Mesbah  , Dina M. Abo-Elmatty  , Mohamed M. Sayed-Ahmed  , Abdel-Moneim M. Osman  and Ola S. Ahmed

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

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 [...]

by Eduardo Garrido  , Javier Botella de Maglia  , Oriol Sibila  and Gustavo Zubieta-Calleja

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

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 [...]

by Irina Udina  , Yurii Vasiliev  , Vladimir Volobuyev  , Olga Gulenko  and Alesya Gracheva

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

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 [...]

by Babak Sokouti

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

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 [...]

by Sean J. O’Sullivan

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

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 [...]

by Nydia Rena Benita Sihombing  , Nani Maharani  , Agustini Utari  and Tri Indah Winarni

Received: 29 November 2024;  Published: 05 February 2025;  doi: 10.21926/obm.genet.2501284

Deletion of chromosome 1p36 encompassed various genes; however, the role of the CAMTA1 gene in the 1p36 region is less investigated. We report a child with developmental delay, a history of congenital heart abnormality, self-injurious behavior, nystagmus, and facial dysmorphism. Chromosomal microarray revealed a 257.2 kb deletion of chromosome 1p36.31, with CAMTA1 as the only involved gene. We explore overlapping clinical features of both chromosome 1p36 deletion and CAMTA1 intragenic deletion, including intellectu [...]

by Bernard R. Baum  and Douglas A. Johnson

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

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 [...]

by Negar Noorbakhsh  , Mina Zamani  , Alireza Sedaghat  , Jawaher Zeighami  , Farangis Foroughi Behbahani  , Sahere Parvas  , Alihossein Saberi  , Mohammad Hamid  , Roya Ghanavati  , Gholamreza Shariati  and Hamid Galehdari

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

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 [...]

by Negar Gorjizadeh  , Payam Saadat  , Abbas Azadmehr  and Saeed Irian

Received: 09 June 2025;  Published: 11 September 2025;  doi: 10.21926/obm.genet.2503310

Genetic factors including TNF-β and DRD2 have been considered as essential components in the etiology of migraine. Several studies have investigated the association between TNF-β +A252G or DRD2 C939T polymorphisms and migraine risk, with debatable results. We aimed to examine whether TNF-β +A252G and DRD2 C939T polymorphisms confer genetic susceptibility to migraine in a Northern Iranian case-control sample. In total, 151 migraineurs (105 with MO 46 with MA) and 144 healthy control subjects were included in this st [...]

by Anna A. Pendina  , Mikhail I. Krapivin  , Irina D. Mekina  , Irina V. Aleksandrova  , Yanina M. Sagurova  , Evgeniia M. Komarova  , Mariia A. Ishchuk  , Andrei V. Tikhonov  , Olesya N. Bespalova  , Alexander M. Gzgzyan  , Igor Yu. Kogan  and Olga A. Efimova

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

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 [...]

by Somayeh Alimoradi Askari  , Mehdi Nasr Esfahani  , Kowsar Shirazi  , Arman Nasr Esfahani  , Hossein Zeinalzadeh-Tabrizi  and Mojtaba Mohammadi

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

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 [...]

by Lamiae Afif  , Zhour El Amrani  , Aziza Sbiti  , Ilham Ratbi  , Imane Cherkaoui Jaouad  , Youssef El Kadiri  , Thomas Liehr  , Abdelaziz Sefiani  and Abdelhafid Natiq

Received: 02 April 2024;  Published: 30 August 2024;  doi: 10.21926/obm.genet.2403259

6q22.31q27 duplication and Xq28 deletion lead to two specific different rare chromosomal disorders. Partial trisomy 6q22.31q27 is a recognizable syndrome with a distinctive phenotype, and the most common finding in girls with Xqter deletions has been premature ovarian failure (POF) and secondary amenorrhea. To our knowledge, neither abnormality in one patient has yet been reported. A 10-year-old girl with de novo 6q22.31q27 duplication and Xq28 deletion was diagnosed by chromosomal microarray and confirmed by fluor [...]

by Leila Naseri  , Mohsen Akbaribazm  and Mozafar Khazaei

Received: 06 February 2024;  Published: 04 July 2024;  doi: 10.21926/obm.genet.2403248

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy causing non-ovulation infertility in women. Women with PCOS have higher levels of luteinizing hormone (LH), testosterone, cholesterol and triglycerides but, in contrast, lower levels of follicular stimulating hormone (FSH) and sex hormone-binding globulin (SHBG) compared with healthy counterparts. Because of the limitations of human studies, animal models of PCOS have been developed to identify appropriate therapeutics and to explore their mechanism [...]

by Bojana Petrovic  , Milica Komnenic Radovanovic  , Nikolina Erceg  , Srboljub Milicevic  and Marija Dusanovic Pjevic

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

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 [...]

by Giuseppe Merra

Received: 03 July 2024;  Published: 10 July 2024;  doi: 10.21926/obm.genet.2403251

by Monday Uchenna Obaji  , Angus Nnamdi Oli  and Malachy C Ugwu

Received: 12 December 2024;  Published: 23 April 2025;  doi: 10.21926/obm.genet.2502293

Cytokines are pivotal regulators of immune responses. They are critical in mediating inflammation, recruiting immune cells, and driving pathogen clearance. Among these, interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor-alpha (TNF-α) stand out as key players in pediatric immunity, as they exhibit unique expression patterns that reflect the dynamic nature of the developing immune system. This review explores the dual roles of these cytokines in orchestrating immune defense and their potential as d [...]

by Dicky Moch Rizal  , Ika Setyawati  , Arya Adiningrat  , Agus Widiyatmoko  , Supriyatiningsih  and Nandia Septiyorini

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

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 [...]

by Akingbolabo Daniel Ogunlakin  , Oluwafemi Adeleke Ojo  , Chimzi David Onu-Boms  , Oluwafemi Samson Afolayan  , Peluola Olujide Ayeni  , Idayat Adeola Akinwumi  , Opeyemi Josephine Akinmurele  , Great Oluwamayokun Adebodun  , Damilare Iyinkristi Ayokunle  , Owoola Azeezat Ambali  , Omolola Adenike Ajayi-Odoko  , Oluwaseun Abigael Ogunlakin  and Mubo Adeola Sonibare

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

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, [...]

by OBM Genetics Editorial Office

Received: 07 January 2021;  Published: 07 January 2021;  doi: 10.21926/obm.genet.2101122

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2020. 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 di [...]