Cytogenetic and Y-chromosome Micro-deletions Analysis of Infertile Indian Males with non-obstructive Azoospermia and Severe Oligozoospermia

Abstract

This study aimed to determine the frequency and type of chromosome anomalies and Y-chromosome microdeletions in Indian infertile males by using non-obstructive azoospermia and severe oligozoospermia. The study included 168 Indian infertile males. G-banding cytogenetic analysis was performed on the peripheral blood lymphocytes of 91 men with non-obstructive azoospermia and 77 men with oligozoospermia. A molecular genetic analysis of Y-chromosome was also performed with multiplex polymerase chain reaction (M-PCR) amplification by using15 Y-specific sequence-tagged sites (STSs) of azoospermia factor (AZF) region to screen the microdeletions in AZFs region of Ychromosome. Out of 168 cases, 152 had normal karyotype 46,XY chromosomal constitution. Cytogenetic abnormalities were found in 13 (7.74%) infertile patients. The frequency of chromosomal anomalies for non-obstructive azoospermia 7 (4.16%) was slightly higher than severe oligozoospermia 6 (3.57%). Chromosomal variants werefound in 2.38% patients. The microdeletions of Y-chromosome were observed in 1.19% and 0.59% patients with non-obstructive azoospermia and severe oligozoospermia, respectively. Microdeletions of both AZFa and AZFc genes identified with normal karyotype. This study has provided information that genetic anomalies act as a risk factor for infertility. It is therefore suggested that genetic techniques should be used for diagnosis purpose to obtain the genetic data for possible genetic counseling/cure to minimize the risk of transmitted genetic anomalies.