Ph. Vogt et al., THE AZOOSPERMIA FACTOR (AZF) OF THE HUMAN Y-CHROMOSOME IN YQ11 - FUNCTION AND ANALYSIS IN SPERMATOGENESIS, Reproduction, fertility and development, 7(4), 1995, pp. 685-693
Different Y mutations in Yq11 occurring ne novo in sterile males were
first described 19 years ago. Since the phenotype of the patients was
always associated with azoospermia or severe oligospermia, it was post
ulated that these mutations interrupt a Y spermatogenesis locus in the
euchromatic Y region (Yq11) called azoospermia factor (AZF). Recently
, it became possible to map AZF mutations to different subregions in Y
q11 by molecular deletion mapping. This indicated that azoospermia is
possibly caused by more than one Y gene in Yq11 and the Yq11 chromatin
structure. The frequency of AZF mutations in idiopathic sterile males
(5-20%) may indicate a need for a general screening programme for its
analysis in infertility clinics.