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ISSN: 2637-4544

Interventions in Gynaecology and Women's Healthcare

Research Article(ISSN: 2637-4544)

Sycp-3 Gene Mutation and DNA Copy Number Variation Increase Genetic Susceptibility in the Cases of Non- Obstructive Azoospermia Volume 5 - Issue 1

Ajit Kumar Saxena1*, Mukta Agarwal2, Meenakshi Tiwari1, Ujjwal Kumar1, Shailendra Kumar1, Lovely Sinha1 and Chandan Kumar Singh1

  • 1Human Molecular Genetics Laboratory, Department of Pathology/Lab Medicine, All India Institute of Medical Sciences, Patna, India
  • 2Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, Patna, India

Received:November 25, 2021Published: December 06, 2021

Corresponding author: Ajit K Saxena, Human Molecular Genetics Laboratory, Department of Pathology/Laboratory Medicine, All India Institute of Medical Sciences, Patna, Bihar, India, Email: draksaxenal@rediffmail.com

DOI: 10.32474/IGWHC.2021.05.000203

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Abstract

Background: In the human, infertility is a serious reproductive health problem in the world, and more than 15% couples are infertile. Male infertility is a highly complex phenomenon involving large number of factors including endocrine dysfunction, socioeconomic, life- style, use of alcohol, drugs, exposure with radiations, chemical (pesticides) and automobile fumes. The genetic factors like complex chromosome rearrangements (CCRs), microdeletion of Y-chromosome (AZF regions) and genes assigned on autosomal region of the chromosomes are also associated with male infertility.
Objective: The role of synaptonemal complex protein-3 (Sycp-3) gene mutation in male infertile patients is not clear in Indian population. Therefore, the present study has been designed to evaluate the percentage frequency of Sycp-3 gene mutation and simultaneously also assess the frequency of DNA copy number variations in nonobstructive azoospermia non obstructive azoospermic (NOA) cases.
Materials and Methods: Genomic DNA was isolated followed by polymerase chain reaction (PCR) using two different sets of up and down stream amplicons, both from clinically diagnosed cases of NOA and controls of the same age group.
Results: The present study mainly categorized, three type of Sycp-3 gene mutations - the complete disappearance bands (absent), over expression and under expression. Interestingly, significant (p<0.05) individual variations were observed in the frequency (%) of complete disappearance (null) of 173bp (8.33%) and 568 bp (12.5%) amplicon followed by calculated value of odd ratio 6.45 and 5.00 with confidence interval varies (C.I) at 95% interval 0.76-55.04 and 1.04-24.02, respectively in the cases of NOA when compared with controls. Similarly, the frequency of over expression (up regulation) in 173bp (5.55%) and 568bp (2.77%) amplicons were also showing significant variations (p<0.05). Further study was extended to calculate the DNA copy number variations, which again shows statistically significant differences (p<0.05) between NOA cases and controls.
Conclusions: The present findings of Sycp-3 gene mutation using two different amplicons in cases of NOA concluded significant variations of Sycp-3 gene mutation of 568 bp amplicon along with DNA CNVs showing negative impact on spermatogenesis determining to causative factor of male infertility.

Keywords: Sycp-3 gene mutation, Copy Number Variation, Non Obstructive Azoospermic

Abstract| Introduction| Materials and Methods| Discussion| Conclusion| Acknowledgement| Conflict of Interest| References|

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