摘要
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 the structure heterochromatin polymorphism of the Y chromosome and clinical effects. Methods ： Conventional cytogenetic technology was used in checking of the Y chromosome abnormality. Results ： A total of 158 cases were examined, Y - chromosome polymorphism variation 43 cases, the rate of mutation detection was 27.22% （43/158）. That included 34 cases of the big Y chromosome, the abnormal rate of 21.52%, which compared to the common popula- tion, there was a significant difference （P 〈 0.01 ） ; and 8 cases of del （ Y）, abnormal rate of 5.06%, which was consistent with the rate of the Y chromosome microdeletion to be reported in male fertility; and 1 cases of t （Y; 15）, the rate of 0. 63 %. Conclusions： Y - chromosome polymorphism was in relation to clinical diseases certainly, which mainly showed that men were no infertility, wives was habitual abortion, and stillbirth, stillbirths, infant deformities, mental retardation and other children.
出处
《中国优生与遗传杂志》
2013年第5期47-48,共2页
Chinese Journal of Birth Health & Heredity
基金
延安大学自然科学研究计划项目(YD2011-04)
关键词
Y染色体多态性
临床效应
核型分析
Y chromosome polymorphism
Clinical effect
Karyotype analysis
