I-34: NRY Haplotype Analysis: towards A Better Understanding of The Genetic Basis of Spermatogenic Failure

It has been established that the Y chromosome carries genes required for spermatogenesis and male fertility. For many decades worldwide screening for gene identification has been conducted in research laboratories. However, it has been a difficult process in identifying such genes (i.e. causative mutations) which could explain the phenotypic variation and could be potentially used as markers for diagnostic purposes. Since the genetics of Y-linked male infertility is still vague and that the AZF regions on Y chromosome have experienced duplication events resulting in repetitive sequence, we discuss a long-range haplotype-based analysis of azoospermic patients in order to identify modal haplotypes strongly associated with azoospermia. The haplotypes will be based on standard UEP and STR markers in the non-recombining region of the Y chromosome (NRY). This approach has the potential of developing a diagnostic DNA screening test for azoospermia.