The azoospermia factor (AZF) of the human Y chromosome in Yq11: Function and analysis in spermatogenesis

被引:27
作者
Vogt, PH
Edelmann, A
Hirschmann, P
Kohler, MR
机构
[1] Section Molecular Human Genetics, Institute of Human Genetics and Anthropology, University Heidelberg, Heidelberg, D-69120
关键词
D O I
10.1071/RD9950685
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
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 postulated 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 Yq11 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.
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收藏
页码:685 / 693
页数:9
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