Screening of Y-chromosome microdeletions in AZF-A region of azoospermic patients

Abstract

Azoospermia factor locus (AZF) is assumed to contain the genes responsible for spermatogenesis. Deletions in these genes are thought to be pathologically involved in some cases of male infertility associated with azoospermia or oligozoospermia. Interstitial microdeletions in the euchromatic portion of long arm on the Y chromosome (Yq) occur in 10–15% of idiopathic primary testiculopathies (azoospermia and severe oligozoospermia). Three non-overlapping regions, referred to as “azoospermia factors” (AZFa, b, c from proximal to distal Yq) have been defined as spermatogenesis loci. Microdeletion in this regions leads to male infertility. In particular, AZFa contains two genes whose absence or mutation cause spermatogenic failure, Ubiquitin-specific protease 9, Y chromosome (USP9Y) and DEAD/H box polypeptide, Y chromosome (DBY). Most AZFa deletions arise from recombination between two 10 kb direct repeats that are 800 kb apart. An attempt was made to establish the prevalence of micro-deletions on AZF-a region of Y chromosome in 9 Azoospermia patients from Mangalore. Polymerase chain reaction (PCR) micro-deletion analysis was done in 9 Azoospermic males and 1 control sample. For this, genomic DNA was extracted from the peripheral blood. One of primer was used amplify the AZF-A region on Y chromosome and run it on 2% Agarose gel electrophoresis to confirm the deletion or amplification of AZF-A Region on Y-Chromosome. In this study we have observed that out of 9 azoospermic sample, AZF-A deletion was observed in 3 samples.