O-1: Evaluation of Ethnic Patterns of Y Chromosome Microdeletions in Iranian Infertile Men with Azoospermia/Severe Oligospermia Referred to Royan Institute

Background: Microdeletions of the long arm of the chromosome Y are the most common molecular genetic cause of severe infertility in men which affect three regions of AZFa, AZFb and AZFc (Azoospermia factor). These regions contain various genes involved in spermatogenesis. The effect of ethnicity on the patterns of Y chromosome microdeletions has not been extensively studied, particulary in Iranian population. The present study aimed to reveal the ethnic patterns of Y chromosome microdeletions in Iranian infertile men with azoospermia/severe oligospermia referred to Royan institute. Materials and Methods: 1889 infertile men referred to Royan Institute with azoospermia/severe oligospermia were examined for Y chromosome micro-deletions from March 2012 to February 2014. We determined micro-deletions of Y chromosome in AZFa, AZFb and AZFc regions using multiplex PCR and six different STS (Sequence-Tagged Site) markers. The patients were categorized into different ethnic groups based on their birth origin and language of their three male generations. Results: Among 1889 infertile men, we determined 103 cases of Y chromosome micro-deletions (5.4%). Of them, 38 cases were from Azeri origin (36.8%), 28 cases from Fars origin (27.1%), 13 cases from Kurd origin (12.6%), 6 cases from the North of Iran (Gilaki and Mazandarani) (5.8%), 8 cases from Lor origin (7.7%), and 2 cases were from Arab origin (1.9%). There were also 5 cases of non-Iranian (Afghani and Iraqi) origin. We could also determine 130 micro-deletions in AZF regions of 103 Iranian infertile men including 94 microdeletions in AZFc region (72.3%), 29 in AZFb region (22.3%) and 7 in AZFa region (5.3%). This pattern of incidence was nearly similar to the reports from other countries. Conclusion: The pattern of Y chromosome micro-deletions in Iranian infertile male population is similar to the other world regions with AZFc as the most common type, and the ethnic origin of the patients does not affect on this pattern.