Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients

Abstract

Infertility is a major reproductive health threat; the frequency of male infertility due to Y-chromosome microdeletions is 13-18% in the human population; these microdeletions involve recurrent loss of three non-overlapping regions designated as AZFa, AZFb and AZFc, associated with spermatogenic failure. Several contradictory reports have been published regarding deletion frequency based on sequence-tagged site markers and genotype-phenotype correlation. We examined the prevalence of Yq- deletion in 64 clinically diagnosed infertile male patients. We found a 3% frequency of microdeletion of the AZFc region; hormone profiles (FSH, LH and testosterone) showed significantly (P < 0.001) elevated levels compared to controls. No mutations were observed in the AZFa and AZFb regions, perhaps due to the selective use of sequence-tagged site markers.