Genetic Studies in Male Infertility Analysis of Deletions of Y Chromosome and Mutations in Cystic Fibrosis Transmembrane Conductance Regulator CFTR Gene in Patients with Congenital Bilateral Absence of Vas Deferens

Abstract

Microdeletions in the azoospermia factor region on the long arm of Y chromosome are associated with spermatogenic failure. There are many markers for the diagnosis of microdeletions of Y chromosome, but in routine practice, only a limited set of markers can be tested. Objective: The objectives of this study were to determine the frequency of microdeletions of Y chromosome in idiopathic cases of male infertility in India, to attempt genotype/phenotype correlation, and to evaluate whether markers to be tested for diagnosis of microdeletions of Y chromosome should be ethnicity speciand#64257;c. Methods: Microdeletions in the Y chromosome were analyzed in 200 infertile males. The six sequence tag site (STS) markers prescribed by the European Academy of Andrology (BAA) were used initially. Patients in whom no deletions were detected by use of these markers were tested by markers selected from other studies from India. Results: The STS markers prescribed by BAA detected deletions in only six (3%) of 200 infertile males. However, markers selected from previous Indian studies showed deletions in an additional 15 (7.5%) of infertile males.