摘要
目的建立原发性无精子症患者的Y染色体微缺失基因诊断方法。方法采用多重PCR技术,对123例原发性无精子症患者和34例正常已生育男性对照进行Y染色体微缺失检测。结果123例原发性无精子症患者中,16例发生了Y染色体微缺失,缺失率13.01%。其中无精症因子(AZFa)区sY86缺失4例(3.25%);AZFb区sY134缺失2例(1.63%);AZFc区sY255缺失8例(6.5%);sY86和sY134同时缺失2例(1.63%)。34例已生育男性均未检测到Y染色体微缺失。结论研究所确定的6个STS位点缺失与男性原发性无精子症密切相关,利用上述STS位点建立的多重PCR技术进行微缺失分析简便、快速、准确,值得推广应用。
Objective To set up gene diagnosis method of azoospermia factor（AZF） Y chromosome microdeletion. Methods Multiplex PCR was used to detect Y chromosome microdeletion in 123 azoospermia patients and 34 healthy controls. Results Y chromosome microdeletion was found in 16 （13.01%） of 123 azoospermia patients, Among the 16 cases, 4 （3.25%） deletions were insY86 （AZFa）, 2 （1.63G） deletions were in sY134 （AZFb）, 8 （6.5G） deletions were in sY255 （AZFc） and 2 （1.63%） deletions were in both sY86 and sY134. No microdeletion was found in 34 controls, Conclusion Y chromosome microdeletion might be closely related to azoospermia.
出处
《国外医学（临床生物化学与检验学分册）》
CAS
2005年第8期498-499,502,共3页
Foreign Medical Sciences(section of Clinical Biochemistry and Laboratory Medicine
基金
成都市锦江区科委资助项目(2002008)
