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

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

Association between Y-chromosome AZFc region micro-deletions with recurrent miscarriage

In human, about 25% of implanted embryos are losing 1-2 week following attachment to the uterus. A subset of this population will have three or more consecutive miscarriages which define as repeated pregnancy loss [RPL]. Introducing the assisted reproductive technologies [ARTS] made a chance for infertile couples to solve their childless problem. This study was conducted to evaluate the incidence of Y-chromosome AZF region's micro-deletions in male partners of couples with recurrent miscarriage [RM]. Thirty male partner of couples with RM and thirty infertile males, who referred to the Yazd Research and Clinical Center for Infertility were recruited to this study. In addition, 30 healthy men were screened as a control group from the same center. After DNA extraction using salting out method, the multiplex-PCR was done for amplifying 8 known STSs proximal to the AZF region of the Y-chromosome. The results were compared between the groups using Fisher's exact t-test and p<0.05 was considered statistically significant. Of the 30 infertile males, 5 [16.6%] cases were associated with the AZF region micro-deletions of DYF87S, DYF84S1, DYF83S1 and DYF51S1, STSs. But in the fertile and RM male groups was found no deletions similar to those, of the infertile males [p=1.0]. Instead 4 [13.3%] cases of the RM group males had different micro-deletions included DYS220 [AZFb, sY129], DYS262, DYF8551, and DYF8651, STSs. The AZFc locus of Y-chromosome micro-deletions have a significant role in RM [p=0.045]. It seems that the Y-chromosome AZF region's micro-deletions are associated with RM, and we recommend adding this AZF region STSs into infertility analyzing panels.