特发性无精子症和少精子症患者无精子因子的研究

目的探讨国人特发性无精子症和少精子症患者Y染色体长臂近端无精子因子基因变异情况.方法运用聚合酶链反应技术对40例特发性无精子症和7例严重少精子症患者以及40例正常生育男性的Y染色体AZF区域的5个序列标签位点和Y染色体性别决定区进行检测. 结果在47例患者中发现5例(10.64%)存在缺失,SRY在所有的待测标本中存在,在40例正常生育男性中未发现有目标基因的缺失.结论 Y染色体长臂上的微小缺失是导致国人特发性无精子症和严重少精子症的危险因素之一;USP9Y可能对生精过程的调控作用有限;相对于AZFb区域,基因缺失在AZFc区域和AZFa区域发生较多,在ICSI术前应重点检测这两个区域的基因缺失情况.

Study on Azoospermia Factors'Candidate Genes in Severe Oligozoospermia and Idiopathic Azoospermia in Chinese Persons

Objective To detect the role of azoospermia factors located on proximal Yq in spermatogenesis among Chinese patients with idiopathic azoospermia and oligozoospermia. Methods Five sequence-tagged sites and SRY regions of the Y chromosome were selected. Forty azoospermia, seven oligozoospermia patiens and 40 fertile men were evaluated using polymerase chain reaction technique. Results Five of 47 patiens (10.64%) with the AZFa or AZFc deletion were found, no deletion in the AZFb or SRY regions were found. No deletion was found in 40 fertile men. Conclusions Microdeletions in Yq is one of the risk factors to the Chinese patients with azoospermia or severe oligospermia; USP9Y gene may be minor to the spermatogenesis in some extent; for more microdeletions were found in the two regions than in AZFb region, analysis of microdeletions should be focused on AZFa and AZFc regions before the treatment of intracytoplasmic sperm injection (ICSI).