Genotyping of palindromic structures and exact partial deletion amplicons of the AZFc to realize the spermatogenesis defects

Background: AZFc microdeletion contains several genes that make contribution in fertility, including four copies of DAZ gene, two copies of CDY1 gene and three copies of BPY2 gene.Methods: To determine the best useful genetic plan to access partial deletion of AZFc, ten STS marker on different amplicons of palindromic structures have genotyped. The test and markers were set up in 15 AZFc patients among 140 infertile men referred to Shahid Dastgheyb hospital, Shiraz University of Medical Sciences.Result: Screening SY1198 marker in the g1, g2 and g3 amplicons also sY1189 in the distance between r2 and b3 parts of AZFc can complete previous defined markers (presence of SY1191 and deletion of sY1291) to detect the exact deletion of gr/gr part of AZFc. This study also showed that SY1189, SY1291 and SY142 markers can be employed to increase the accuracy of identifying the deletion of b2/b3 part which, includes deletions of two copies of DAZ gene and BPY2 gene. Specific markers; sY1191, sY1291, sY1189 and sY1198 were set up to detect deletion of b1/b3 part of AZFc. Also SY1313 was defined as an informative marker to differentiate CDY1b gene from its aligned copy, CDY1a gene.Conclusion: High resolution markers defined in this study are useful for a genetic plan to find out losses of different amplicons and gene copies of AZFc region. The result is in accordance and a complementary method to previous studies and rare kits available on the market which have applied for rare genetic forms of AZFc.

Keywords:

AZFc , Azoospermia , STS marker , Y chromosome , Male infirtility