男性不育患者的细胞遗传学分析及荧光原位杂交分析

目的:探讨染色体异常与男性不育的关系.方法:采用外周血淋巴细胞培养方法制备染色体,G、C等显带技术进行细胞遗传学分析为主,部分47,XXY标本再行双色荧光原位杂交技术分析.结果:450例男性不育患者的染色体异常率高达20.7%,以性染色体异常为主.对其中细胞遗传学分析染色体核型为47,XXY的20例标本再行双色荧光原位杂交技术分析,结果19例为47,XXY,1例为47,XXY/46,XY嵌合体.结论:性染色体数目异常是男性不育患者的重要病因.双色FISH技术检测性染色体数目异常克氏综合征,快速、准确、识别嵌合体核型有明显优势,是常规细胞遗传学检测的必要补充,两种技术相结合更有利于性染色体异常患者的诊断.

Cytogenetic and FISH analysis of male infertility patients

Objective:To investigate the relationship between male infertility and the chromosome abnormality in male infertility patients. Methods:Routine culture for the peripheral blood lymphocytes were made to prepare chromsome G,C band were analysed with cytogenetic technigue in 450 cases of male infertility. Dual-color fluorescence in situ hybridization(D-FISH) analyses using sex-chromosome specific probes was performed in 20 cases of 47,XXY. Results: There were 96 abnormal karyotypes cases(20.7%). Of which 67.8% were sex-chromosome abnormalities by D-FISH,one of 20 cases of karyotype 47, XXY was mosaic nuclei. Conclusion: Hereditary factor is important reason for male patients with infertility. Traditional cytogenetic analysis would be an obligatory method for infertility diagnosis. FISH is a valuable technique in diagnosing sex-chromosomal count abnormality,especially mosaic nuclei.