严重少精子症及无精子症的遗传学分析  

A genetic study on infertile patients with severe oligozoospermia and azoospermia

作　　者：杨会林[1] 董晶[1] 

机构地区：[1]北京大学深圳医院检验科,广东深圳518036

出　　处：《中国实验诊断学》2014年第4期561-564,共4页Chinese Journal of Laboratory Diagnosis

基　　金：深圳市科技计划项目(201103032)

摘　　要：目的探讨严重少精子症、无精子症与遗传学的关系。方法采用外周血细胞培养染色体检查和多重PCR技术对142例严重少精子症和178例无精子症患者进行细胞遗传学和Y染色体AZF微缺失检测,同时对100例精液参数正常男性进行AZF微缺失检测作为对照。结果在严重少精子症患者中,染色体异常率为16.20%(23/142),AZF缺失率为9.86%(14/142);在无精子症患者中,染色体异常率为19.66%(35/178),AZF缺失率为11.24%(20/178);精液参数正常患者未检出AZF微缺失。在严重少精子症和无精子症患者中,染色体异常和AZF缺失比例均显著高于精液参数正常对照组。结论染色体异常和AZF微缺失是引起男性不育的重要原因,通过染色体和AZF微缺失检测可以为优生优育提供可靠的遗传信息依据。Objective To investigate the genetic cause of severe oligozoospermia and azoospermia.Methods Cytoge-netic analysis and multiplex polymerase chain reaction（PCR）analysis were performed on 142 severe oligozoospermia patients and 178 azoospermia patients.As a contrast,AZF microdeletion analysis were done on 100 normal seman pa-rameter controls.Results 23（16.20%）abnormal chromosomal karyotypes and 14（9.86%）AZF microdeletions were found in 142 severe oligozoospermia patients,35（19.66%）abnormal chromosomal karyotypes and 20（11.24%）AZF microdeletions were found in 178 azoospermia patients.The ratio of chromosomal abnormalities and AZF microdeletions in patients with sperm disorders were significantly higher than normal seman parameter controls.Conclusion chromo-somal abnormality and AZF microdeletion are important causes of male infertility,the detection of chromosomal karyo-type and AZF microdeletion can provide reliable genetic informations for prenatal and postnatal care.

关 键 词：男性不育症 严重少精子症 无精子症 染色体异常 无精子因子微缺失 

分 类 号：R698.2[医药卫生—泌尿科学]