scholarly journals Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Hazem Kaheel ◽  
Andreas Breß ◽  
Mohamed A. Hassan ◽  
Aftab Ali Shah ◽  
Mutaz Amin ◽  
...  
Keyword(s):  
Genetic Diseases ◽  
Gene Mutations ◽  
Gjb2 Gene ◽  
Causative Gene ◽  
Large Numbers ◽  
High Carrier ◽  
Prelingual Deafness ◽  
Clinical Interest ◽  
The One ◽  
35Delg Mutation

Background. Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5–5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI. Methods. We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations. Results. The result revealed that, in GJB2 gene, c.35delG is the most prevalent among affected studied subjects (13.64%), followed by c.457G>A (2.4%). Conclusion. The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.

scholarly journals Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss

2009 ◽  
Vol 63 (4-5) ◽  
pp. 198-203
Author(s):  
Olga Šterna ◽  
Natālija Proņina ◽  
Ieva Grīnfelde ◽  
Sandra Kušķe ◽  
Astrīda Krūmiņa ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Gjb2 Gene ◽  
Connexin 26 ◽  
Compound Heterozygous ◽  
Nonsyndromic Hearing Loss ◽  
Profound Hearing Loss ◽  
Common Cause ◽  
Gjb2 Mutation ◽  
35Delg Mutation

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.

scholarly journals Determinism and free will in the age of genetics: Theoretical-legal concerns about predictive genetic tests

2012 ◽  
Vol 23 (4) ◽  
pp. 57-70
Author(s):  
Silvia Salardi
Keyword(s):  
Ethical Issues ◽  
Genetic Diseases ◽  
Gene Mutations ◽  
Legal Order ◽  
Genetic Tests ◽  
Legal Provisions ◽  
Predictive Genetic Tests ◽  
Bioethical Issues ◽  
The One ◽  
Different Levels

The paper deals with the use of predictive genetic tests in medical research. I limit my discussion to those advances in genetics which try to overcome the limits represented by our genetic make-up, in particular by gene mutations that lead, or could lead, to the development of genetic diseases. Besides the ethical issues concerning the topic of the current discussion, the reader will also find an evaluation of the legal provisions elaborated at the different levels of the legal order (international, European, and national). The aim of this evaluation is to find out which model of Law is being adopted in bioethical issues like the one discussed in this paper. The paper underlines and argues how Law can contribute (and has already contributed at the different levels: International, European, and national) to value and to spread an ethics of responsibility.

scholarly journals Development of a potent embryonic chick lens model for studying congenital cataracts in vivo

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Zhen Li ◽  
Sumin Gu ◽  
Yumeng Quan ◽  
Kulandaiappan Varadaraj ◽  
Jean X. Jiang
Keyword(s):  
Light Transmission ◽  
Genetic Diseases ◽  
Gene Mutations ◽  
Underlying Mechanism ◽  
Dominant Negative ◽  
Lens Model ◽  
Embryonic Chick ◽  
Congenital Cataracts ◽  
Chick Lens

AbstractCongenital cataracts are associated with gene mutations, yet the underlying mechanism remains largely unknown. Here we reported an embryonic chick lens model that closely recapitulates the process of cataract formation. We adopted dominant-negative site mutations that cause congenital cataracts, connexin, Cx50E48K, aquaporin 0, AQP0R33C, αA-crystallin, CRYAA R12C and R54C. The recombinant retroviruses containing these mutants were microinjected into the occlusive lumen of chick lenses at early embryonic development. Cx50E48K expression developed cataracts associated with disorganized nuclei and enlarged extracellular spaces. Expression of AQP0R33C resulted in cortical cataracts, enlarged extracellular spaces and distorted fiber cell organization. αA crystallin mutations distorted lens light transmission and increased crystalline protein aggregation. Together, retroviral expression of congenital mutant genes in embryonic chick lenses closely mimics characteristics of human congenital cataracts. This model will provide an effective, reliable in vivo system to investigate the development and underlying mechanism of cataracts and other genetic diseases.

scholarly journals Women (and Men) on the Move: Scots in the English North c. 1440

2018 ◽  
Vol 57 (1) ◽  
pp. 1-28 ◽  
Author(s):  
Judith M. Bennett
Keyword(s):  
Large Numbers ◽  
The One

AbstractAlien subsidies suggest that many men and few women immigrated to England between 1440 and 1487. This article examines the one exception to this pattern: the large numbers of Scotswomen assessed as aliens in Cumberland, Westmorland, and Northumberland in 1440. It considers why so many women are found in these particular returns, what we can know about them, and how this knowledge might change our histories of women, labor, and mobility in both Scotland and England.

scholarly journals Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 73 ◽  
Author(s):  
Alberto Falchetti
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Hot Spot ◽  
Gene Mutations ◽  
Causative Gene ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Main Gene ◽  
Clinical Surveillance

Despite its identification in 1997, the functions of the MEN1 gene—the main gene underlying multiple endocrine neoplasia type 1 syndrome—are not yet fully understood. In addition, unlike the RET—MEN2 causative gene—no hot-spot mutational areas or genotype–phenotype correlations have been identified. More than 1,300 MEN1 gene mutations have been reported and are mostly "private” (family specific). Even when mutations are shared at an intra- or inter-familial level, the spectrum of clinical presentation is highly variable, even in identical twins. Despite these inherent limitations for genetic counseling, identifying MEN1 mutations in individual carriers offers them the opportunity to have lifelong clinical surveillance schemes aimed at revealing MEN1-associated tumors and lesions, dictates the timing and scope of surgical procedures, and facilitates specific mutation analysis of relatives to define presymptomatic carriers.

scholarly journals Rare Earth Elements Enhanced the Oxidation Resistance of Mo-Si-Based Alloys for High Temperature Application: A Review

Coatings ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 1144
Author(s):  
Laihao Yu ◽  
Yingyi Zhang ◽  
Tao Fu ◽  
Jie Wang ◽  
Kunkun Cui ◽  
...  
Keyword(s):  
Rare Earth ◽  
High Temperature ◽  
Rare Earth Elements ◽  
Oxidation Resistance ◽  
Oxidation Behavior ◽  
Strengthening Mechanism ◽  
Advanced Materials ◽  
Performance Requirements ◽  
Large Numbers ◽  
The One

Traditional refractory materials such as nickel-based superalloys have been gradually unable to meet the performance requirements of advanced materials. The Mo-Si-based alloy, as a new type of high temperature structural material, has entered the vision of researchers due to its charming high temperature performance characteristics. However, its easy oxidation and even “pesting oxidation” at medium temperatures limit its further applications. In order to solve this problem, researchers have conducted large numbers of experiments and made breakthrough achievements. Based on these research results, the effects of rare earth elements like La, Hf, Ce and Y on the microstructure and oxidation behavior of Mo-Si-based alloys were systematically reviewed in the current work. Meanwhile, this paper also provided an analysis about the strengthening mechanism of rare earth elements on the oxidation behavior for Mo-Si-based alloys after discussing the oxidation process. It is shown that adding rare earth elements, on the one hand, can optimize the microstructure of the alloy, thus promoting the rapid formation of protective SiO2 scale. On the other hand, it can act as a diffusion barrier by producing stable rare earth oxides or additional protective films, which significantly enhances the oxidation resistance of the alloy. Furthermore, the research focus about the oxidation protection of Mo-Si-based alloys in the future was prospected to expand the application field.

scholarly journals Genetic diseases of the Kennedy pathways for membrane synthesis

2020 ◽  
Vol 295 (51) ◽  
pp. 17877-17886
Author(s):  
Mahtab Tavasoli ◽  
Sarah Lahire ◽  
Taryn Reid ◽  
Maren Brodovsky ◽  
Christopher R. McMaster
Keyword(s):  
Single Gene ◽  
Genetic Diseases ◽  
Point Mutations ◽  
Gene Mutations ◽  
Hereditary Diseases ◽  
Biological Functions ◽  
Phospholipid Synthesis ◽  
Spastic Paraplegia ◽  
Kennedy Pathway ◽  
Single Gene Disorders

The two branches of the Kennedy pathways (CDP-choline and CDP-ethanolamine) are the predominant pathways responsible for the synthesis of the most abundant phospholipids, phosphatidylcholine and phosphatidylethanolamine, respectively, in mammalian membranes. Recently, hereditary diseases associated with single gene mutations in the Kennedy pathways have been identified. Interestingly, genetic diseases within the same pathway vary greatly, ranging from muscular dystrophy to spastic paraplegia to a childhood blinding disorder to bone deformations. Indeed, different point mutations in the same gene (PCYT1; CCTα) result in at least three distinct diseases. In this review, we will summarize and review the genetic diseases associated with mutations in genes of the Kennedy pathway for phospholipid synthesis. These single-gene disorders provide insight, indeed direct genotype-phenotype relationships, into the biological functions of specific enzymes of the Kennedy pathway. We discuss potential mechanisms of how mutations within the same pathway can cause disparate disease.

scholarly journals Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Yinsen Song ◽  
Zhengping Dong ◽  
Shuying Luo ◽  
Junmei Yang ◽  
Yuebing Lu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Genetic Diseases ◽  
Amplicon Sequencing ◽  
Bone Marrow Examination ◽  
Pathogenic Mutation ◽  
Pedigree Analysis ◽  
Compound Heterozygote ◽  
Loss Of Function ◽  
Causative Gene ◽  
Chediak Higashi Syndrome

Abstract Background Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to other species such as bovine and mouse. To date, 74 pathogenic or likely pathogenic mutations had been reported. Case presentation Here we describe a compound heterozygote in LYST gene, which was identified in a 4-year-old female patient. The patient showed skin hypopigmentation, sensitivity to light, mild splenomegaly and reduction of platelets in clinical examination. Giant intracytoplasmic inclusions were observed in the bone marrow examination, suggesting the diagnosis of CHS. Amplicon sequencing was performed to detect pathogenic mutation in LYST gene. The result was confirmed by two-generation pedigree analysis base on sanger sequencing. Conclusion A compound heterozygote in LYST gene, consisting of a missense mutation c.5719A > G and an intron mutation c.4863-4G > A, was identified from the patient by using amplicon sequencing. The missense mutation is reported for the first time. Two-generation pedigree analysis showed these two mutations were inherited from the patient’s parents, respectively. Our result demonstrated that amplicon sequencing has great potential for accelerating and improving the diagnosis of rare genetic diseases.

scholarly journals Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations

2010 ◽  
Vol 2010 ◽  
pp. 1-6 ◽  
Author(s):  
Mukesh Tanwar ◽  
Tanuj Dada ◽  
Rima Dada
Keyword(s):  
Clinical Manifestations ◽  
Gene Mutations ◽  
Corneal Opacity ◽  
North India ◽  
Congenital Glaucoma ◽  
Causative Gene ◽  
Nasal Bridge ◽  
Rieger Syndrome ◽  
Cytochrome P4501b1 ◽  
Outflow Pathway

Developmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway. Thus, disorders that present with such dysfunction tend to be associated with glaucoma. Among them, Axenfeld-Rieger (ARS) malformation is a rare clinical entity with an estimated prevalence of one in every 200,000 individuals. The changes in eye morphogenesis in ARS are highly penetrant and are associated with 50% risk of development of glaucoma. Mutations in the cytochrome P4501B1 (CYP1B1) gene have been reported to be associated with primary congenital glaucoma and other forms of glaucoma and mutations in pituitary homeobox 2 (PITX2) gene have been identified in ARS in various studies. This case was negative forPITX2mutations and compound heterozygote forCYP1B1mutations. Clinical manifestations of this patient include bilateral elevated intraocular pressure (>40 mmHg) with increased corneal diameter (>14 mm) and corneal opacity. Patient also had iridocorneal adhesions, anteriorly displaced Schwalbe line, anterior insertion of iris, broad nasal bridge and protruding umbilicus. This is the first study from north India reportingCYP1B1mutations in Axenfeld-Rieger syndrome with bilateral buphthalmos and early onset glaucoma. Result of this study supports the role ofCYP1B1as a causative gene in ASD disorders and its role in oculogenesis.

Biotechnology education and societal demands: challenges faced by biotechnology and human resources development

2010 ◽  
Vol 6 (1) ◽  
pp. 72-90 ◽  
Author(s):  
B. Pandu Ranga Narasimharao
Keyword(s):  
Developing Countries ◽  
Human Resource Development ◽  
Knowledge Integration ◽  
Knowledge Society ◽  
Integrated Approach ◽  
Content Type ◽  
Large Numbers ◽  
Moral Problems ◽  
Educational Guidance ◽  
The One

PurposeThe purpose of this paper is to highlight the social responsibility of universities and other higher education institutes in meeting the challenges faced by biotechnology and human resource development.Design/methodology/approachThe challenges faced by biotechnology are discussed under three broad heads – exponential growth in biotechnology knowledge, commercialization and industrialization of the biotechnologies, and knowledge integration by various stakeholders of biotechnology.FindingsThe emergence of the knowledge society warrants that universities ensure that overall work of the academy is more relevant to the nation's most pressing civic, social, economic and moral problems and that there is an urgent need to have a fresh look at the approaches followed in biotechnology education and training, particularly with reference to developing countries. It is necessary to see how the different players (industries, university, society, government) concerned with biotechnology can act in unison and in a mutually beneficial way. An integrated approach to the field of biotechnology combining different subject areas is necessary and the courses and approach should reflect this.Originality/valueCareer counselors and those engaged in educational guidance are flooded with inquiries about biotechnology courses and their scope. It is observed, on the one hand, that the biotechnology field is starved of talent and, on the other hand, that there are several universities/colleges, particularly in developing countries, producing large numbers of unemployable graduates. Some serious thinking needs to be done urgently to overcome this problem.

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