Table of Contents

Open Access

ISSN 2577-5790

OBM Genetics , Volume 3 , Issue 3 (2019)

Pages: 163

Published: October 2019

(This book is a printed edition that was published in OBM Genetics)

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Cover story: Pneumocystis have coevolved with their mammalian hosts for millions of years. As a result, there are clear evidences of positive selection in the genes coding for major surface glycoproteins (MSG) in Pneumocystis. Here we question whether there are evidences of positive selection in the genes coding for the biosynthesis of GPI which is the molecule used by Pneumocystis to target MSG to the cell membrane. View this paper.

Volume 3,Issue 3

Open Access Short Report

Thalassemia Intermedia Caused by a Combination of a Globin Gene Triplication with Heterozygosity for β0 Thalassemia: A Case Report

Received: 19 May 2019;  Published: 17 September 2019;  doi: 10.21926/obm.genet.1903095


Thalassemia syndromes are a group of hemoglobinopathies characterized by gene defects that disrupt hemoglobin synthesis. Thalassemia intermediate is referred to a group of disorders with a less severe form of the disease when compared with thalassemia major. We present the case of a 60 year old woman who was referred to an hematologist for chronic anemia and splenomegaly.

Open Access Editorial

Introduction to Genetic Screening

Received: 06 September 2019;  Published: 11 September 2019;  doi: 10.21926/obm.genet.1903094


We present here the content and articles of this special issue on genetic screening, putting them in perspective with the field and between themselves.

Open Access Review

Newborn Screening for Genetic Diseases: An Overview of Current and Future Applications

Received: 01 July 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903093


Newborn screening (NBS) for inborn errors of metabolism (IEM) was introduced more than 50 years ago with the testing of phenylketonuria (PKU) using blood spots deposited on a filter paper after heel prick. NBS aims to identify early after birth inherited disorders for which clinical management and pre-symptomatic treatment will significantly decrease morbidity and mortality. While NBS for a few other disorders was implemented in some specific jurisdictions over the following decades, it is with [...]

Open Access Communication

Upregulation of COX-2 in MCF7 Breast Cancer Cells When Exposed to Shear Stress

Received: 17 June 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903092


Background: Invasive breast cancer affects 1 in 8 women in the United States and causes one of the highest cancer mortality rates for women. Cyclooxygenase-2 (COX-2), a central enzyme in prostaglandin biosynthesis, is implicated in breast cancer initiation, progression, invasion, metastasis, and has been implicated in mechanotransduction of breast cancers. However, it is not currently known if shear stress mediated mechanotransduction is mediated by COX2. Therefore, in this report, we hypothesiz [...]

Open Access Original Research

Deletion of Subtelomeric Regions in the Linear Chromosome of Variants Isolated from Streptomyces avermitilis NBRC 14893T

Received: 19 April 2019;  Published: 23 August 2019;  doi: 10.21926/obm.genet.1903091


Background: Streptomyces avermitilis is an actinomytcete producing avermectins and the complete genome sequence of S. avermitilis K139 was determined in 2003. In our previous study, we have revealed that S. avermitilis NBRC 14893T harbors two extra secondary metabolite-biosynthetic gene clusters (smBGCs), com and ptx, which are not present in strain K139. Methods: To determine the genomic loci encoding com and ptx gene clusters, we carried out whole genome sequencing for S. avermitilis NBRC 1489 [...]

Open Access Research Article

BSA-Embedded Carbonate Apatite Enhances Chemotherapeutic Effect of Paclitaxel in vitro and in vivo

Received: 29 March 2019;  Published: 15 August 2019;  doi: 10.21926/obm.genet.1903090


Among the strategies for enhanced pharmacokinetics and also pharmacodynamics of nano-formualtions is introduction of biocompatible materials to improve the capacity of the final product. With the aim to tackle drug loading and ultimate efficacy, incorporation of Bovine Serum Albumin (BSA) into carbonate apatite (CA) structure was applied in this study. As a result, around three times higher loading efficiency for paclitaxel (Pac) was achieved via BSA utilization. Moreover, boosted efficacy in li [...]

Open Access Review

Diagnosis and Treatment of Mitochondrial Abnormalities in Reproductive Medicine

Received: 08 April 2019;  Published: 14 August 2019;  doi: 10.21926/obm.genet.1903089


Mitochondrial diseases represent the most common inborn errors of metabolism. The overwhelming majority of mitochondrial diseases (about 85 %) are caused by mutations of nuclear genes of oxidative phosphorylation. The remaining 15 % are caused by mtDNA mutations. The familial mtDNA mutations are exclusively inherited from the mother. Dysfunction of oocyte mitochondria is believed to result in poor developmental competence of oocytes in older infertility patients. Therefore, a group of patients u [...]

Open Access Review

Next-Generation Sequencing-Based Testing in Diagnostic Oncohematology: Untangling the Knots

Received: 01 April 2019;  Published: 09 August 2019;  doi: 10.21926/obm.genet.1903088


With the advent of next generation sequencing (NGS), genomic profiling of tumors has gradually been introduced into the clinical setting and become a standard in cancer care. NGS allows easier, faster and cheaper sequencing and commercially available panels enable the detection of single or global genomic alterations, of germline and somatic origin. Genomic mutation profiling using NGS is today indispensable for disease evaluation and prediction of prognosis or responsiveness to cancer therapy. [...]

Open Access Research Article

Family History, Genetic, and Other Cause-Related Beliefs among Breast Cancer Survivors

Received: 27 February 2019;  Published: 26 July 2019;  doi: 10.21926/obm.genet.1903087


Patients’ lay theories about the cause of their cancer may influence patient behavior and adjustment, they have also been found to differ substantially from scientific evidence of cancer risk factors. This report describes beliefs about genetic causes of breast cancer, among 522 recently diagnosed breast cancer survivors participating in an observational study. Patients were asked to respond to an open-ended question about the cause of their cancer. Causes mentioned included family history, ge [...]

Open Access Original Research

The Evolution of DNA Typing in Agri-Food Chain

Received: 11 June 2019;  Published: 23 July 2019;  doi: 10.21926/obm.genet.1903086


Background: DNA typing has revolutionised not only diagnostics and forensics but also how we can analyse food. A number of techniques have been successfully applied for DNA analysis of plant-derived food however, unlike forensics, no method has become universally employed. Methods: A keyword-based search was performed using the ISI-Web of Science database to look for research articles on DNA testing in agri-food chain. After screening and eligibility check, the systematic review was performed fo [...]

Open Access Case Report

Constitutional Partial Proximal Trisomy 14q11.2 to 14q21: Two New Moroccan Cases and Review of the Literature

Received: 25 July 2018;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903085


Small supernumerary marker chromosomes (sSMCs), a major problem in clinical cytogenetics, are too small to be characterized for their chromosomal origin by cytogenetic banding techniques. Most sSMCs have not yet been correlated with a specific clinical syndrome, and genotype-phenotype correlation in sSMC-patients is still in major parts under development. In this paper we report two new Moroccan cases with a polymalformative syndrome, in which we identified similar but not identical sSMCs derive [...]

Open Access Review

Preimplantation Genetic Testing for HLA-matching: An Overview of Clinical Application and Utility

Received: 03 June 2019;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903084


Preimplantation Genetic Testing for HLA-matching (PGT-HLA) has been one of the most controversial PGT applications, first reported in 2001. The procedure aims to identify an embryo that is not only healthy but also HLA-matched with a sibling in the family in need of haematopoietic stem cell transplantation (HSCT), considering that sibling HSCT stands the highest chance of success in comparison to alternative approaches. HLA-typing can be performed with or without PGT-M for the exclusion of a sin [...]

Open Access Original Research

Genes Coding for GPI Biosynthesis in Pneumocystis Experienced Relaxed Selection: A Follow-up Study

Received: 05 May 2019;  Published: 11 July 2019;  doi: 10.21926/obm.genet.1903083


Background: Phylogenetic analyses shows that Pneumocystis species have coevolved with their mammalian hosts for millions of years. As a result, infection by Pneumocystis is species specific (i.e. a given Pneumocystis species can infect only a single species of host). This specificity suggests the existence of a Red-Queen dynamic between Pneumocystis and its host. Evidence of this dynamic is provided by the molecular diversity and the elevated rate of non-synonymous versus synonymous (dN/dS) codo [...]