论文部分内容阅读
目的探讨Y染色体结构多态与临床效应的关系。方法应用常规细胞遗传学技术对Y染色体结构异常进行检查分析。结果 158例受检者共检出Y染色体多态性变异43例,变异检出率为27.22%(43/158)。其中包括大Y染色体34例,异常发生率为21.52%,明显高于普通人群中的发生率,二者相比有显著性差异(P<0.01);del(Y)8例,异常率为5.06%,与已报道在生育男性中Y染色体微缺失发生率一致;t(Y;15)1例,异常率为0.63%。结论 Y染色体多态性与临床疾病有一定的联系,主要表现为男性不孕不育,其妻习惯性流产、死胎、死产,畸形儿、智力低下儿等。
Objective To investigate the relationship between Y chromosome polymorphism and clinical effect. Methods Y chromosome structural abnormalities were examined by routine cytogenetics. Results A total of 43 cases of Y chromosome polymorphism were detected in 158 cases, the detection rate was 27.22% (43/158). Including 34 cases of large Y chromosome, the incidence of abnormalities was 21.52%, which was significantly higher than that of the general population (P <0.01). There were 8 cases of del (Y) with an abnormal rate of 5.06 %, Consistent with the reported incidence of Y chromosome microdeletions in fertile males; 1 case of t (Y; 15) with an abnormal rate of 0.63%. Conclusion Y chromosome polymorphism and clinical disease have a certain relationship, mainly for male infertility, his wife habitual abortion, stillbirth, stillbirth, deformed children, mental retardation and so on.