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

DOI : http://dx.doi.org/10.13005/bbra/1113

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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 Y-chromosome. 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.

Male infertility; Chromosomal anomalies; Y-chromosome micro-deletion; Azoospermia