8a Genetics of idiopathic male infertility: Y chromosomal azoospermia factors (AZFa, AZFb, AZFc)

Abstract

Y chromosomal spermatogenesis loci in Yq11 are disrupted with a frequency of 5–20% in men suffering from idiopathic infertility (azoospermia or severe oligozoospermia). they were designated azoospermia factors (AZFa, AZFb, AZFc). An efficient schedule for their molecular diagnosis in each infertility clinic is presented. In addition, I will include our current knowledge about their biological function during human germ cell development and a description of their pathology in men suffering from deletion of one or more AZF loci. Each Y gene expressed in testis tissue and located in Yq11, in a position overlapping one of the AZF loci, is an AZF candidate gene. Their diagnostic analysis will be described in a separate section. The clinical diagnosis of AZF candidate genes cannot substitute for diagnosis of the genetically defined AZF loci. Therefore, analysis of candidate genes is aimed at answering the question of whether mutations in their exon structures are able to induce the same pathological phenotypes as deletion of the corresponding AZF locus. Only after these gene mutations have been analysed can the AZF candidate gene be designated as a real AZF gene. Therefore, the basic aim of our current research is isolation and identification of all AZF genes.