Multiplex PCR screening of Y-chromosome microdeletions in azoospermic ICSI candidate men

ABSTRACT

It has been hypothesized that Y-q microdeletion can account for significant proportion of infertility in men. There are three nonoverlapping regions referred to as the "azoozpermia factors" AZFa, AZFb, and AZFc from proximal to distal part of Y-q. These have been defined as spermatogenesis loci, this region deletions have been shown to be involved in male azoospermic or severe oligoozospermic infertility. Evaluation the rate of Y-chromosome microdeletions in infertile men. In this case-control study, 25 azoospermic infertile men candidate for intracytoplasmic sperm injection [ICSI] were selected as case group. For control group, 25 normoozoospemric men were selected. All cases and controls had normal 46XY karyotype. DNA extraction and molecular analysis were done on blood samples. Multiplex-PCR method was done to identify the presence of microdeletion in AZFa, AZFb or AZFc loci. Eight STS primers that include two controls were selected to determine Y-chromosome microdeletions. 20% [5/25] of all patients have at least one microdeletion in more than one region of AZF loci. Totally 17 microdeletions was observed, one case had deletions in three AZF regions, and 4 cases had deletions in two AZF regions. The rate of deletions was 42% [7/17] for AZFc, 35% [6/17] for AZFa and 23% [4/17] for AZFb. The molecular DNA analysis could help us to know the real cause of infertility and can give good information for good decision for example in men whit microdeletions who want to undertake ICSI procedure the deletions will be passed to their son