CERTIFICATE

IMPACT FACTOR 2021

Subject Area

  • Life Sciences / Biology
  • Architecture / Building Management
  • Asian Studies
  • Business & Management
  • Chemistry
  • Computer Science
  • Economics & Finance
  • Engineering / Acoustics
  • Environmental Science
  • Agricultural Sciences
  • Pharmaceutical Sciences
  • General Sciences
  • Materials Science
  • Mathematics
  • Medicine
  • Nanotechnology & Nanoscience
  • Nonlinear Science
  • Chaos & Dynamical Systems
  • Physics
  • Social Sciences & Humanities

Why Us? >>

  • Open Access
  • Peer Reviewed
  • Rapid Publication
  • Life time hosting
  • Free promotion service
  • Free indexing service
  • More citations
  • Search engine friendly

Penetrance of de novo mutation of usp9y and pcdh11y gene in azf regions of non-obstructive Azoospermic population in India

Author: 
Ajit Kumar Saxena, Meenakshi Tiwari and Aniket Kumar
Subject Area: 
Health Sciences
Abstract: 

Introduction: Male infertility is a serious problem in developing world where genetic and epigenetic factors play a crucial role in the pathogenesis of the disease. The rationale behind the present study to understand the genetic basis of male infertility, to identify the “novel gene mutation” and also asses the frequency (%) of microdeletion of Y-chromosome i.e. deletion of AZF regions interfare during spermatogenesis. Still, 10-20% cases of infertility fail to identify exact cause of male infertility and are fall in the category of unexplained cause of infertility in non obstructive azoospermia. Material and Methods: Blood samples were collected from the cases of clinically diagnosed non obstructive azoospermia (NOA) with respective controls. Study was performed using RT-PCR based analysis using 14 set of STS markers of AZF region allocated on Y- chromosome and NextGen Sequencing. Results: Mutational spectra include the individual variations of frequency of AZF gene mutation as a factor responsible for male infertility in eastern part of the country. Genetics analysis of AZF a, b, and c regions showing different frequency of deletion but the deletion of AZFc showing significant difference with respect to controls (p<0.001). NGS play a significant role to explore the involvement of de novo mutation of USP9Y and PCDH11Y gene mutation resulting changes in protamines. The deletion frequency AZFa region is 1.0%, while AZFb and AZFc regions showing 6% & 19%, respectively in non obstetric azoospermic cases. Hence, curiosity has been developed further to identify “new mutations” based on Next Gen Sequencing, identifies USP9Y gene of AZFa region showing non-frame shift mutation (insertion of C→G/C→A) at region exon42:c.6996_6997 insCGA in heterozygous condition. Secondly, of AZFb region showing single nucleotide gene polymorphism rs2524543, G→T and rs2563389, T→ G of PCDH11Y gene in homozygous condition. Conclusion: The identification of causative mutations in the cases of NOA and their penetrance lead to interference in spermiogenesis .Hence, on the basis of mutational spectra, genetic counselling of infertile couples are required before reaching to final decision. No doubt the environmental factors influence the gene-pool lead to altered spermatogenesis in male infertility.

PDF file: 

CALL FOR PAPERS

 

ONLINE PAYPAL PAYMENT

IJMCE RECOMMENDATION

Advantages of IJCR

  • Rapid Publishing
  • Professional publishing practices
  • Indexing in leading database
  • High level of citation
  • High Qualitiy reader base
  • High level author suport

Plagiarism Detection

IJCR is following an instant policy on rejection those received papers with plagiarism rate of more than 20%. So, All of authors and contributors must check their papers before submission to making assurance of following our anti-plagiarism policies.

 

EDITORIAL BOARD

CHUDE NKIRU PATRICIA
Nigeria
Dr. Swamy KRM
India
Dr. Abdul Hannan A.M.S
Saudi Arabia.
Luai Farhan Zghair
Iraq
Hasan Ali Abed Al-Zu’bi
Jordanian
Fredrick OJIJA
Tanzanian
Firuza M. Tursunkhodjaeva
Uzbekistan
Faraz Ahmed Farooqi
Saudi Arabia
Eric Randy Reyes Politud
Philippines
Elsadig Gasoom FadelAlla Elbashir
Sudan
Eapen, Asha Sarah
United State
Dr.Arun Kumar A
India
Dr. Zafar Iqbal
Pakistan
Dr. SHAHERA S.PATEL
India
Dr. Ruchika Khanna
India
Dr. Recep TAS
Turkey
Dr. Rasha Ali Eldeeb
Egypt
Dr. Pralhad Kanhaiyalal Rahangdale
India
DR. PATRICK D. CERNA
Philippines
Dr. Nicolas Padilla- Raygoza
Mexico
Dr. Mustafa Y. G. Younis
Libiya
Dr. Muhammad shoaib Ahmedani
Saudi Arabia
DR. MUHAMMAD ISMAIL MOHMAND
United State
DR. MAHESH SHIVAJI CHAVAN
India
DR. M. ARUNA
India
Dr. Lim Gee Nee
Malaysia
Dr. Jatinder Pal Singh Chawla
India
DR. IRAM BOKHARI
Pakistan
Dr. FARHAT NAZ RAHMAN
Pakistan
Dr. Devendra kumar Gupta
India
Dr. ASHWANI KUMAR DUBEY
India
Dr. Ali Seidi
Iran
Dr. Achmad Choerudin
Indonesia
Dr Ashok Kumar Verma
India
Thi Mong Diep NGUYEN
France
Dr. Muhammad Akram
Pakistan
Dr. Imran Azad
Oman
Dr. Meenakshi Malik
India
Aseel Hadi Hamzah
Iraq
Anam Bhatti
Malaysia
Md. Amir Hossain
Bangladesh
Ahmet İPEKÇİ
Turkey
Mirzadi Gohari
Iran