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Open Access

ISSN 2577-5790

© 2024 by the authors; CC BY 4.0 licence

OBM Genetics , Volume 8 , Issue 3 (2024)

Pages: 269

Published: September 2024

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

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Cover Story: Chemical mutagens were applied to improve grape genotypes by inducing polyploidy without losing genetic gains. As a result, a Gök Üzüm (Vitis vinifera L.) seedling treated with Sodium Azide (0.05% 2-h) was confirmed to be a full triploid with 3n=57 chromosomes by chromosome counting at the root tip and flow cytometry analysis. View this paper.

Volume 8,Issue 3

Open Access Review

Status of Azoospermia in Saudi Arabia: A Retrospective Narrative Mini-Review

Received: 19 April 2024;  Published: 30 September 2024;  doi: 10.21926/obm.genet.2403265

Abstract

The total lack of spermatozoa in the ejaculate is known as Azoospermia. It is the most severe and significant contributor to male infertility. Therefore, the purpose of this study is to assess the status of Azoospermia and its etiologic factors that contribute to male infertility in Saudi Arabia. This study included all published studies written in English that were published in Saudi Arabia. Online searches via PubMed and Google Scho [...]

Open Access Original Research

Polyploidy Induction by Sodium Azide and Ethyl Methane Sulfonate in Grape Genotypes

Received: 03 June 2024;  Published: 27 September 2024;  doi: 10.21926/obm.genet.2403264

Abstract

Continuous improvement of vine rootstocks and grape varieties is necessary for the sustainability of viticulture. In this context, grapevine breeding and especially the development of polyploid grapevine genotypes offer opportunities. This study investigated the effectiveness of sodium azide (SA, five dozes and two treatment duration) and ethyl methane sulfonate (EMS, four dozes and two treatment duration) in inducing polyploidy. In Ekşi Kara and Gök Üzüm grape cultivars and 41B and [...]

Open Access Original Research

DNA-Based Variability of Length Polymorphism of Plant Allergens Coding Genes Homologs in Selected Lamiaceae Herbs

Received: 21 May 2024;  Published: 26 September 2024;  doi: 10.21926/obm.genet.2403263

Abstract

Medicinal plants have been a part of human life from a very early age. In the field of plant genetics, they are still widely investigated for their genomic variability. This study used two DNA marker techniques to obtain polymorphic profiles in selected species from Lamiaceae. Both are based on the variability of plant genes that code for allergens - BBAP (Bet v 1-Based Amplicon Polymorphism) and PBAP (Profilin-Based Amplicon Polymorphism). Variability of Bet v 1 homologues within individual gen [...]

Open Access Case Report

Becker Phenotype Muscular Dystrophy in a Man with Klinefelter Syndrome: A Rare Association

Received: 08 July 2024;  Published: 26 September 2024;  doi: 10.21926/obm.genet.2403262

Abstract

To present a rare clinical case of a man affected simultaneously by Becker phenotype Muscular Dystrophy (MD) and Klinefelter syndrome and the way how he was diagnosed. A 35-year-old man was evaluated in the context of hospitalization for respiratory failure. Since childhood, he had a clinical and muscle biopsy diagnosis of muscular dystrophy, possibly type Becker. His physical examination showed severe weakness of the pelvic and shoulder girdle, with a waddling g [...]

Open Access Review

Clinical Features, Genetic Landscape and Management of Behçet's Syndrome: A Comprehensive Review

Received: 25 June 2024;  Published: 19 September 2024;  doi: 10.21926/obm.genet.2403261

Abstract

Behçet's syndrome is a systemic inflammatory disorder of unknown origin, presenting with diverse symptoms such as recurrent oral and genital ulcers, skin lesions, and uveitis, and can impact multiple organ systems. Diagnosis relies primarily on clinical evaluation due to the lack of specific diagnostic tests. Management requires a multidisciplinary approach to control inflammation and alleviate symptoms, utilizing treatments like corticosteroids, immunosuppressive agents, and biological therapie [...]

Open Access Review

Molecular Marker Applications in the Selection of Elite Genotypes for Plant Stress Tolerance and Genetic Fidelity

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

Abstract

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 [...]

Open Access Case Report

Unique Female Patient with de novo 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature Review

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

Abstract

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 m [...]

Open Access Book Review

Case Studies in the Ethics of Assisted Reproduction, by Louise P. King & Isabelle C. Band, Switzerland: Springer Cham, 152 Pages, Ebook, 978-3-031-41215-8

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

Abstract

"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 AR [...]

Open Access Case Report

A Child Carrying a Large Deletion in the 10p.15.3-p12.31 Region

Received: 01 June 2024;  Published: 20 August 2024;  doi: 10.21926/obm.genet.2403257

Abstract

Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global developmental delay, distinctive facial features with cleft lip, congenital exotropia, laryngomalacia, atrial septal defect, and sensorineural hearing loss. 46, XX, del (10p→ter) was observed on the G-ban [...]

Open Access Review

Phenylketonuria—Past, Present, and Future Directions

Received: 12 May 2024;  Published: 16 August 2024;  doi: 10.21926/obm.genet.2403256

Abstract

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism with an incidence that varies throughout the world. PKU is caused by loss of function variants in the phenylalanine hydroxylase gene. This loss of function leads to the accumulation of an amino acid, phenylalanine (Phe), that can reach toxic levels in the blood. PKU is managed with a medical diet and sometimes with medication. If diagnosed early and with strict dietary control, neurocognitive deficits can be p [...]

Open Access Original Research

Miscarriages after Natural Conception & IVF: Comparative Study of Genetic Analysis of Products of Conception

Received: 30 April 2024;  Published: 05 August 2024;  doi: 10.21926/obm.genet.2403255

Abstract

Assisted reproductive technologies (ART), including in vitro fertilization (IVF), are modern medical technologies widely used in developed countries. A frequent complication of pregnancy resulting from ART is miscarriage. The leading cause of miscarriage, both sporadic and recurrent, is chromosomal abnormalities (CA) of the embryo. To compare the frequency and structure of chromosomal abnormalities (CA) of the embryo during miscarriages after IVF and natural [...]

Open Access Review

Exploring Multitargets Treatment for Diabetes

Received: 17 February 2024;  Published: 30 July 2024;  doi: 10.21926/obm.genet.2403254

Abstract

Diabetes Mellitus (DM) is a degenerative disease that modifies the body’s glucose metabolism. Although glucose is a vital energy source for body cells, individuals with diabetes can either not use insulin efficiently or do not create enough of this hormone, which controls blood sugar. This review aimed to explore the multi-target treatment for diabetes.

Open Access Review

Blinatumomab vs Chemotherapy for Pediatric and Adult Acute Lymphoblastic Leukemia

Received: 08 February 2024;  Published: 19 July 2024;  doi: 10.21926/obm.genet.2403253

Abstract

Several therapeutic methods are used to cure acute lymphoblastic leukemia (ALL). Relapsed/refractory B-cell ALL (R/R B-ALL) remains the primary cause of death worldwide due to the limitation of cure. Blinatumomab is a bispecific T-cell engaging antibody used to treat R/R B-ALL. The use of blinatumomab for treating R/R B-ALL has shown to be very efficient, especially as a bridg [...]

Open Access Review

Potential Use of Human Mesenchymal Stem Cells (hMSCs) in Pancreatic Damage/Cancer

Received: 13 March 2024;  Published: 17 July 2024;  doi: 10.21926/obm.genet.2403252

Abstract

Pancreatic damage and pancreatic cancer pose significant challenges due to their complex pathogenesis, limited treatment options, and poor prognosis. In recent years, the potential use of human Mesenchymal Stem Cells (hMSCs) has been explored to address these complex pancreatic conditions and develop novel therapeutics. hMSCs, known for their regenerative and immunomodulatory properties, offer a novel therapeutic avenue for repairing damaged tissues and possibly inhibiting cancer progression. Th [...]

Open Access Editorial

The Intersection of Nutrigenetics, Nutrigenomics, and the Microbiome in Human Health

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

Open Access Short Review

A Narrative Review on the Use of Eye-Tracking in Rett Syndrome: Implications for Diagnosis and Treatment

Received: 27 January 2024;  Published: 05 July 2024;  doi: 10.21926/obm.genet.2403250

Abstract

Rett syndrome (RTT) is a rare neurodevelopmental disorder primarily affecting females, characterized by a spectrum of debilitating symptoms that impact neurological, cognitive, and motor functions. Eye-tracking technology (ETT) has emerged as a prominent tool in Augmentative and Alternative Communication (AAC) systems, particularly for neurological patients with motor and verbal impairments. This narrative review aimed to evaluate stu [...]

Open Access Review

Causes of Chromosome Breakage and Mis-segregation Affecting Pregnancy and Newborn Health: An Insight into Developing Reproductive Health Preventive Strategies

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

Abstract

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 n [...]

Open Access Review

Hormonal and Physiological Manipulation Methods to Induce Polycystic Ovary in Rodents: A Review of the New Findings

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

Abstract

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 exp [...]
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