70例严重少精症和无精症患者Y染色体微缺失检测

目的：探讨严重少精症和无精症与Y染色体微缺失的关系。方法：对染色体正常的70例严重少精症和无精症患者运用多重PCR技术检测Y染色体AZF基因家族AZFa、AZFb、AZFc三个区域中6个序列标签位点（sequence taggedsites,STS）微缺失,20例精液正常患者作为对照。结果：39例严重少精症患者中发现5例存在Y染色体微缺失,均为AZFc缺失,缺失率为12.82%（5/39）;31例无精症患者中发现6例存在Y染色体微缺失,其中AZFb＋AZFc缺失2例,AZFb缺失3例,AZFc缺失1例,缺失率为19.35%（6/31）。20例精液正常患者Y染色体均未发现微缺失。结论：Y染色体微缺失是造成男性精子发生障碍的常见病因之一。

Detection of Y Chromosome Microdeletions in 70 Infertile Men with Severe Oligozoospermia or Azoospermia

Objective：To assess the relationship between severe oligozoospermia or azoospermia and Y chromosomal microdeletions.Methods：Seventy chromosome normal infertile men with severe oligozoospermia or azoopermia were screened by multi-polymerase chain reactions with 6 sequence tagged sites in AZFa、AZFb、AZFc region,and 20 normospermic men as controls.Results：12.82 %（5/39）of microdeletions were detected in 39 severe oligozoospermia,and microdeletion type was AZFc.19.35 %（6/31）of microdeletions were detected in 31 azoospermia,and microdeletion types were AZFb＋AZFc,AZFb and AZFc.Microdeletions were not detected in 20 normospermic men.Conclusion：Y chromosome microdeletion is one of the causes which result in male spermatogenetic obstacle.