高分辨染色体数据分析在完善孕前优生检查中的作用  

Role of high resolution chromosome data analysis in improving pre-preg-nancy eugenics examination

作　　者：席微 刘恒涛 窦肇华 XI Wei;LIU Hengtao;DOU Zhaohua(Beijing Jiaen Hospital,Beijing,100191;Beijing Renjiyuan Medical Research Institute,Beijing,101111;Jilin Medical University,Jilin City,Jilin Provice,132013,China)

机构地区：[1]北京家恩德运医院,北京100191 [2]北京仁基源医学研究院,北京101111 [3]吉林医药学院,吉林吉林132013

出　　处：《吉林医药学院学报》2022年第4期256-259,共4页Journal of Jilin Medical University

摘　　要：目的 了解育龄人群中染色体异常的分布,促进人口健康增长。方法 收集2015-2020年间22740例20-45岁育龄受检者外周血标本,进行550-850条带的高分辨率染色体核型分析,归纳统计结果。结果 全部受检者中,共计发现938例携带染色体异常结果,其中染色体结构异常381例,染色体数目异常557例。染色体结构异常病例进一步细分为以下四类:相互易位192例,罗氏易位59例,染色体倒位63例,其他结构异常67例。结论 在育龄人群中普及推广孕前染色体检查,对优生优育有促进性作用。Objective To understand the distribution of chromosome abnormalities in people of childbearing age and promote the healthy growth of population.Methods The peripheral blood samples of 22740 subjects aged 20-45 years of childbearing age from 2015 to 2020 were collected for high-resolution karyotype analysis of 550-850 bands,and the statistical results were summarized.Results Nine hundred and thirty-eight cases of chromosome abnormalities were found,including 381 cases with structural abnormalities and 557 cases with numerical abnormalities.All the cases with chromosome structural abnormalities are classified into four types,as 192 cases of reciprocal translocation,59 cases of Robertsonian translocation,63 cases of chromosome inversion and 67 cases with other chromosome structural aberrations.Conclusion The popularization of pre pregnancy chromosome examination in the population of childbearing age can promote eugenics.

关 键 词：染色体异常 高分辨率染色体核型分析 孕前优生 健康检查 

分 类 号：R743.3[医药卫生—神经病学与精神病学]