133例男性原发不育患者染色体核型及Y染色体微缺失分析

Chromosome karyotype and Y chromosome microdeletion analysis in 133 idiopathic male infertile patients

目的探讨染色体核型异常及Y染色体微缺失与男性原发不育的关系。方法利用染色体技术、PCR技术等对133例男性不育患者进行外周血染色体分析及Y染色体微缺失检测。结果133例男性原发不育患者中发现异常核型25例(18.80%);发现Y染色体微缺失12例(9.02%),其中2例精索静脉曲张及2例隐睾患者;4人同时存在染色体核型异常及Y染色体微缺失。结论男性原发不育与染色体核型异常及Y染色体微缺失关系密切,对男性原发不育患者进行染色体核型及Y染色体微缺失检测非常重要。

Objective To explore the relationship between chromosomal abnormalities and Y chromosome microdeletions in idiopathic male infertile patients.Methods Karyotypic anlaysis and PCR were carried out in 133 male idiopathic infertile patients for chromosome karyotype and Y chromosome microdeletion analysis.Results Of the 133 patients,25（18.80%） were found to have chromosome abnormalities,and 12（9.02%） were found to have Y chromosome microdeletions including 2 with varicocele and 2 with cryptorchism.Four patients had both chromosomal abnormalities and Y chromosome microdeletions.Conclusion The chromosomal abnormalities and Y chromosome microdeletions may play an important role in idiopathic male infertility,suggesting the importance of examinations of chromosomal abnormalities and Y chromosome microdeletions in such patients.