High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men.

Deletions in the AZoospermia Factor (AZF) regions (spermatogenesis loci) on the human Y chromosome are reported as one of the most common causes of severe testiculopathy and spermatogenic defects leading to male infertility, yet not much data is available for Indian infertile men. Therefore, we screened for AZF region deletions in 973 infertile men consisting of 771 azoospermia, 105 oligozoospermia and 97 oligoteratozoospermia cases, along with 587 fertile normozoospermic men. The deletion screening was carried out using AZF-specific markers: STSs (Sequence Tagged Sites), SNVs (Single Nucleotide Variations), PCR-RFLP (Polymerase Chain Reaction - Restriction Fragment Length Polymorphism) analysis of STS amplicons, DNA sequencing and Southern hybridization techniques.

Proteome of human endometrium: Identification of differentially expressed proteins in proliferative and secretory phase endometrium.

Purpose: To exploit the potential of proteomics to identify and study additional yet-unidentified important proteins present in human endometrium.

Experimental Design: The proteome of human endometrium would be established using 2-DE and MALDI and the data analyzed to identify differential protein expression in the proliferative and secretory phase of the menstrual cycle using PDQuest software and MALDI.

Results: In the present work, 2-DE of human endometrium protein led to the resolution of over 200 spots.

Screening of the galactose-1-phosphate uridyltransferase gene in Indian women with ovarian failure.

The present study was aimed at mutational screening of the gene coding for galactose-1-phosphate uridyltransferase in females with premature ovarian failure within an Indian population. A case-control-based study approach was used. It included females with premature ovarian failure (n = 108), primary amenorrhoea (n = 37) and secondary amenorrhoea (n = 9), and a control group of 136 women with a normal ovarian pattern.