Sri Ramachandra Institute of Higher Education and Research, India

Title: Prevalence of Y chromosomal microdeletion in Indian infertile males with sperm abnormality


During gamete’s development and spermatogenesis, certain genes on the Y chromosome (Yq) in Male specific region (MSR) are responsible for human gametes formation. The long arm, Yq, is composed of both euchromatin and the genetically inactive heterochromatin regions. This region contains the Azoospermia factors AZFa, AZFb and AZFc. In the case of male infertility, microdeletions on the Yq chromosome appear to be structural chromosomal anomalies linked to sperm abnormality. The present study was aimed to look at the incidence, of Asthenospermia (AS), Teratospermia (TS), Oligospermia (OS) and Oligoasthenoteratospermia (OAT) patterns of Y chromosomal microdeletions in Indian infertile men with a (AZF a, b, c). In this study, 75 infertile men as case and 75 fertile males as a control were examined for AZF locus microdeletion utilizing sequence-tagged sites. The AZFc region of germ cell DNA (50.6%) being the most deleted section in infertile males when compared to blood DNA (21.3%), followed by deletions in the AZFb region (21.3%) in germ cell DNA where as blood DNA had a and no microdeletion in the AZFa region in both germ cell DNA and blood DNA. infertile men had that significant Yq microdeletion in both AZF b and also AZFc. Around 33% (25) of 75 infertile men had AZF (a, b, c) region microdeletion in blood DNA, compared to it germ cell DNA had a larger percentage of 72%(54) had Y chromosome micro deletions in study samples, with the study samples identified the high frequency  rate of deletions seen  in germ cell DNA. PCR-based Y chromosome microdeletions screening using germ cell DNA along with Genomic DNA might help in screening of genetic abnormality of infertile men those who endure assisted reproductive technology treatments. And it also might be attributable to the interplay of lifestyle factors and genetic factors both contribute to the risk of developing these germ line deletions.


To be updated.