A study on genetic aspects of male infertility in North-east Indian population, India

Materials and methods A total of 500 infertile male patients attending private infertility clinics of Guwahati, Assam, were selected for the study. Blood and semen samples were collected from the patients. Genomic DNA was isolated from both type of samples and PCR amplification was carried out using specific primer sets. The genes and sequence-tagged site (STS) markers included in the study are: DBY, USP9Y, PRY-2, RBMY, BPY-2, XKRY, CDY-1, CSPG4LY, DAZ, sY84, sY254, sY127, SY145, sY152 and sY153. All genes and STS were amplified efficiently in samples from 100 fertile men tested, but failed to be amplified in samples from fertile women. In order to study the role of mtDNA in sperm motility, semen DNA from 50 patients including 10 Asthenospermic, 20 Asthenoteratozoospermic and 20 oligoasthenoteratozoospermic patients and 20 fertile men were studied using specific primers for four mitochondrial genes, namely ND2, ND4, ATPase6 and ATPase8 followed by DNA sequencing.