Many male infertility cases are because of genetic and environmental factors and most of them are idiopathic. About 10-20% of azoospermic patients are showing the microdeletion in Y-chromosome. The azoospermia factor or AZF region at the Yq11 position which consists of genes those are necessary for spermatogenesis. In Y chromosome microdeletion, deletion in AZFa region is very rare. The aim of our study is to find out the frequency of microdeletions in Y chromosome particularly in AZFa region in azoospermic men of Vellore cohort. For this study, we collected 10 azoospermic patient and 10 control men samples from the Sandhya hospital, Vellore. In this study, we mainly focused on AZFa region to analyze the frequency of microdeletions in Y chromosome using SY82 (264bp) and SY83 (275bp) STS markers. There was an absence of microdeletion in patient samples for SY82 and SY83 markers of AZFa region. We concluded that sample size should be increased to confirm our results. © Published under licence by IOP Publishing Ltd.

Abilash Valsala Gopalakrishnan

Department of Bio-Medical Sciences

School of Bio Sciences and Technology

Vellore Campus

Ramgir S.S

Sharma A

Kruyanshi M

Jaiswal A

Renu K

Prabhu Y.D

Sekar N

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Vellore Institute of Technology (VIT) is a private university located in&nbsp;Tamil Nadu, India. Founded in 1984, as Vellore Engineering College, the institution offers 20 undergraduate, 34 postgraduate, four integrated and four research programs. It has campuses in Vellore, Amravati, Bhopal and Chennai.

VIT is one of the top ranked private universities in India according to NIRF, THE and QS Rankings.&nbsp;Govt. of India has recognized&nbsp;VIT, Vellore as an&nbsp;Institution of Eminence. This has allowed VIT to take independent quality initiatives and move up in world ranking.

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The frequency of Y chromosome microdeletions in infertile men of Vellore cohort

IOP Conference Series: Materials Science and Engineering

Rare cases of 9 complete androgen insensitivity syndromes, 9 cases of partial androgen insensitivity syndromes and equal number of male control samples were selected for this study. Few strong variations in clinical features were noticed; Giemsa banded metaphase revealed a 46,XY karyotype and the frequency of chromosome aberrations were significantly higher when compared with control samples. DNA sequence analysis of the androgen receptor gene of androgen insensitivity syndromes revealed three missense mutations - c.C1713. >. G resulting in the replacement of a highly conserved histidine residue with glutamine p.(His571Glu) in DNA-binding domain, c.A1715. >. G resulting in the replacement of a highly conserved tyrosine residue with cysteine p.(Tyr572Cys) in DNA-binding domain and c.G2599. >. A resulting in the replacement of a highly conserved valine residue with methionine p.(Val867Met) in ligand-binding domain of androgen receptor gene respectively. The heterozygous type of mutations c.C1713. >. G and c.G2599. >. A observed in mothers of the patients for familial cases concluding that the mutation was inherited from the mother. The novel mutation c.C1713. >. G is reported first time in androgen insensitivity syndrome. In-silico analysis of mutations observed in androgen receptor gene of androgen insensitivity syndrome predicted that the substitution at Y572C and V867M could probably disrupt the protein structure and function. © 2015 Elsevier B.V..

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Journal	Data powered by TypesetIOP Conference Series: Materials Science and Engineering
Publisher	Data powered by TypesetIOP Publishing
ISSN	1757-8981
Open Access	No