严重少精子症及无精子症的遗传学分析

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。

A genetic study on infertile patients with severe oligozoospermia and azoospermia

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.