男性不育症精子发生相关基因缺陷的筛查研究

A Screening Study of Relevant Gene Microdeletion of Spermatogenesis in Infertile Men

目的:探讨男性不育患者精子发生相关基因缺陷与精子生成的关系。方法:应用多重聚合酶链反应(PCR)扩增分析方法对149例男性不育症患者及100例有正常生育能力的男子进行Y染色体上相关基因检测和常规外周血染色体核型分析。结果:不育症组有11例存在着Y染色体上不同基因片段的微缺失,缺失率为7.38％,染色体异常核型发生率为14.09％;而正常对照组均未发现相应部位的缺失,异常核型发生率为2％。11例存在Y染色体上不同基因片段微缺失者只有1例合并有异常核型,说明两者之间无相关性。结论:提示Y染色体微缺失是引起男性不育的一个重要原因,在进行单精子卵泡浆内注射(ICSI)时应进行Y染色体微缺失的分子检测,以免所生的男性后代亦有与其父亲相同原因的不育问题。

Objectives: To investigate the relations between microdeletion of gene and spermatogenesis in infertile men. Methods : To test the relative gene of Y-chromosome and conduct routine karyotype analysis of peripheral blood chromosome in both 149 azoospermic or sever oligospermic men and 100 normal fertile men by multipolymerase chain reaction (PCR). Results:The microdeletion in different segments of gene of Y-chromosome were discovered in 11 cases of the male infertile group. The microdeletion rate was 7. 38%. However, no microdeletion in the corresponding area was found in the control group. The incidence of abnormal karyotype in infertile group was 14. 09%, and 2% in the control group. Among 11 cases with microdeletion in different segments of gene of Y-chromosome, only one case had abnormal karyotype, which showed that there was no relativity between abnormal karyotype and microdeletion of Y-chromosome. Conclusion: It is suggested that the microdeletion of Y-chromosome be an important cause to lead to male infertility. During ICSI treatment, the molecular detection of gene microdeletion of Y-chromosome should be conducted to avoid the infertile problems in the male descendants who were born after ICSI treatment with the same factors as their fathers.