Y染色体多态性与临床遗传效应的关系

Research on Y chromosome polymorphism and clinical genetic effect

目的探讨Y染色体多态性与临床遗传效应的关系。方法采用外周血淋巴细胞G显带技术,分析染色体核型,探讨Y染色体多态性对生育能力的影响。结果 154对夫妇中男性患者染色体检出大Y染色体10例,临床症状包括习惯性流产、胎儿停止发育、无(少)精子症、死胎、原发不育等。检出小Y染色体13例,临床症状包括胎儿停止发育、习惯性流产、无(少)精子症、死胎等。结论 Y染色体多态性可能引起妊娠时发生习惯性流产、胎儿停止发育、无(少)精子症、死胎、原发不育等不良妊娠临床遗传效应。

Objective To investigate the relationship between polymorphism of Y chromosome and its clinical effect.Methods The peripheral blood lymphocyte G banding technique was used to analyze karyotype.The effect of Y chromosome polymorphism on fertility was investigated.Results Ten male cases of large Y chromosome were detected in the 154 couples,and the clinical symptoms included habitual abortion,termination of fetal development,no（less） sperm disease,fetal death,primary sterility and so on.Besides,13 cases of small Y chromosome were detected,and the clinical symptoms included termination of fetal development,habitual abortion,no（less） sperm disease,and fetal death.Conclusion Y chromosome polymorphism may cause termination of fetal development,habitual abortion,no （less） sperm disease,fetal death,and primary sterility in the process of pregnancy.