Gene Scanning for Microdeletions in the Azoospermia Factor Region of Y-Chromosome in Infertile Men of Gujarat, India

• Published in: Journal of clinical and diagnostic research 2017-08, Vol.11 (8), p.GC01-GC06
• Main Authors: Nailwal, Mili, Chauhan, Jenabhai B
• Format: Article
• Language: English
• Subjects: Genetics Section; male infertility; sequence-tagged site polymerase chain reaction; yq chromosome
• ISSN: 2249-782X; 0973-709X
• DOI: 10.7860/JCDR/2017/26750.10350

Azoospermia Factor (AZF) microdeletions in Yq chromosome is one of the most frequent genetic cause associated with failure of spermatogenesis in males with infertility. To figure out the Yq chromosome microdeletions frequency in infertile men from Gujarat region of India. In this study, 141 infertile men with azoospermia (n=41) and oligozoospermia (n=100) were examined along with 159 normozoospermic men. Eleven different markers spanning the azoospermia factor region of human Yq chromosome, amplified by sequence-tagged site Polymerase Chain Reaction (PCR) to detect the microdeletions. Sperm morphological analysis was done using papanicolau staining method. Thirty four infertile men out of 141 presented Yq chromosome microdeletions. The frequency of AZF microdeletions was 31.71% in azoospermia and 21% in oligozoospermia patients. Only two oligozoospermia patients showed morphological defects. Due to the presence of high frequency of Yq chromosome microdeletions in Gujarati infertile men, it is imperative to implement the AZF microdeletion screening in such patients as it results in male spermatogenesis dysfunctioning.