Study of Y-Chromosome Microdeletions in Azoospermic Infertile Males using Multiplex PCR Analysis

Abstract

The infertility affects about 15% of couples and male factors being responsible about 40-50%. In male infertility, genetic abnormalities of Y chromosome play crucial role in spermatogenesis defect. Y chromosome q arm having Azoospermia factor region (AZFa, AZFb, and AZFc) are most important for spermatogenesis. Here, we investigated the frequencies of Y-chromosome microdeletions using three sets of multiplex PCR in idiopathic cases of azoospermia. We studied a total of 110 infertile male with non-obstructive azoospermia subjects & 50 fertile control subjects. All DNA samples were used for Y chromosome microdeletions analysis by using 11 STS markers in three different multiplex PCR of AZF regions. Out of 110 infertile azoospermic males, 14 (12.72%) infertile males showed partial deletion of AZF regions using three sets of multiplex PCR group. In the AZF microdeletions of infertile males, individually AZFc region was the most deletions sites (10%) followed by AZFb (6.36%) and AZFa (1.81%). The sites and sizes of microdeletions differ in all infertile azoospermic males who showed at least two or more STS markers microdeletions. The frequency of Y chromosome microdeletions in our azoospermic infertile males is 12.72%. We conclude that Y chromosome microdeletions frequency in azoospermic infertile males is higher than other infertile group due to severe impairment in spermatogenesis. Multiplex PCR screening of microdeletions is very useful and time saving technique when used more number of STS markers. It will be great help to infertility clinics for genetic counseling and assisted reproduction.