青岛地区69例无精子症和严重少精子症患者的遗传学分析

Qingdao area 69 cases of no sperm and sperm less serious genetic analysis

目的探讨无精子症和严重少精子症与遗传因素的关系。方法对69例无精子症和严重少精子症患者进行外周血染色体G显带核型分析,运用多重PCR技术检测Y染色体AZF基因家族AZFa、AZFb、AZFc三个区域中的6个序列标签位点(sequencet agged sites,STS)微缺失。结果 69例无精子症和严重少精子症患者中有染色体异常12例,Y染色体微缺失14例,其中有4例患者既存在染色体异常,又存在Y染色体微缺失。结论无精子症和严重少精子症与遗传缺陷密切相关。

Objective：To investigate the relationship between azoospermia and severe oligozoospermia and geneticfactors. Methods：69 cases of azoospermia and severe oligozoospermia patients peripheral blood chromosome G banding karyotype analysis,using 6 sequence tagged site detection of Y chromosome AZF gene family,AZFa,AZFb,AZFc multiple PCR technology in the three zone（sequencet aged sites,STS）microdeletion. Results：69 cases of azoospermia and severe oligozoospermia patients with chromosome abnormality in 12 cases,Y chromosome microdeletion in 14 cases,including 4 cases of both chromosomal abnormalities,and the presence of Y chromosome microdeletions. Conclusion： azoospermia and severe oligospermia and genetic defects are closely related.