Molecular genetic study on AZFa and AZFb sub region microdeletions in infertile men of Gujarat, Western India

BackgroundMale infertility is rising worldwide due to multiple etiological factors. Among the various causes, genetic cause contributes in disruption of spermatogenesis, especially due to Y chromosome microdeletions in azoospermia factor (AZF) region.Aim of the studyThe aim of this study is to identify the AZFa and AZFb microdeletion which are risk factors for infertility in men of Gujarat.Subjects and methodsWe analysed pattern of microdeletions for the first time in 100 infertile men of Gujarat, Western India consisting of 50 infertile (azoospermia, oligozoospermia and asthenozoospermia) and 50 fertile control men. Genomic DNA was screened with one internal SRY (sex-determining region Y) gene specific STS (sequence-tagged site) marker and five STS markers representing AZFa and AZFb sub-regions.ResultsAmong 50 infertile men, three (6%) oligozoospermic men were found to have microdeletion in AZFa sub-region whereas no microdeletion found in AZFb sub-region.ConclusionFrom our study, it is identified that Y chromosome microdeletion screening is necessary in Gujarati population to rule out genetic causes responsible for male infertility and to proceed for assisted reproductive technology.