Gene Scanning for sY242 Microdeletion in Males with Infertility

ABSTRACT: Infertility is a significant disorder of the male or female reproductive system, defined by the failure to conceive after twelve months or more of unprotected sexual intercourse. Around 9% of males and 10% of females aged 22-44 reported trouble in reproducing. Y-chromosome microdeletions within the azoospermia factor (AZF) regions represent a major genetic cause of male infertility. In the current study, sperm morphological examination was performed using Papanicolaou staining to identify spermatozoa abnormalities. Gene scanning for sY242 (AZFc sub-region) microdeletion was performed by STS-PCR. Total of 100 semen samples (67 normozoospermia, 30 oligozoospermia and 3 azoospermia including blood) were examined for sperm morphological abnormalities and Y chromosomal microdeletion. Eighty-seven samples showed variable amount of sperm defects whereas 13 samples showed high amount of head, tail and mid piece defects. Gene scanning at sY242 using STS-PCR technique showed microdeletion in the 13 samples which includes 5 normozoospermic (7.46%), 7 oligozoospermic (23.33%) and 1 Azoospermic (33.3%) males. Our findings suggest that there is a involvement of sperm morphological defects during sY242 microdeletion in the studied infertile males. However, the study can be extended for more number of samples to rule out actual frequency of microdeletion at sY242 gene and its association with sperm morphological defects. This study will be of great help to infertility clinics for genetic counseling and assisted reproduction.