云南德宏地区496例遗传咨询者外周血染色体核型分析  

Analysis of chromosome karyotype in blood of 496 cases of genetic counseling.in Dehong Prefecture

作　　者：易薇 葛世军 刘艳芳 番云华 杨必清 褚嘉祐[2] 杨昭庆[2] YI Wei;GE Shi-jun;LIU Yan-fang;PAN Yun-hua;YAND Bi-qing;CHU Jia-you;YANG Zhao-qing(Clinical Laboratory,People′s Hospital of Dehong Prefecture,Mangshi,Yunnan 678400,China;Institute of Medical Biology,Chinese Academy of Medical Sciences&Peking Union Medical College,Yunnan Kunming 650118)

机构地区：[1]德宏州人民医院检验科,云南德宏678400 [2]中国医学科学院北京协和医学院医学生物学研究所,云南昆明650118

出　　处：《中国优生与遗传杂志》2019年第10期1189-1190,1193,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家重点研发计划项目(2016YFC1201704)

摘　　要：目的分析云南德宏傣族景颇族自治州遗传咨询者中染色体异常的类型及发生率,探讨染色体异常与不孕不育、不良孕史、智力低下等疾病的关系。方法运用细胞遗传学染色体核型分析技术,对496例遗传咨询者进行外周血淋巴细胞采集和培养,常规方法制备染色体,并运用G显带技术进行染色体核型分析,必要时进行C显带分析。结果共检出异常染色体核型34例,发生率为6.85%。其中结构异常8例,数目异常7例,染色体多态性19例。结论染色体异常是导致不孕不育、不良孕史、智力低下等疾病的重要原因之一,对具有上述临床表现的人群应积极开展染色体检查。Objective:To analyze the types and incidence of chromosomal abnormalities in cases of genetic counseling in Dehong Prefecture,and to investigate the relationship between chromosomal abnormalities and diseases including infertility,poor pregnancy and mental retardation.Methods:Peripheral blood lymphocytes from 496 patients of genetic counseling were collected and cultured.Chromosomes were prepared by routine methods.Chromosome karyotype analysis was carried out by using G-banding technique,and C-banding analysis was carried out upon requirement.Results:34 cases with chromosomal abnormalities were detected,and the incidence rate was 6.85%.Among the 34 cases,8 cases were chromosome structural abnormalities,7 cases were chromosome numerical abnormalities and 19 cases were chromosome polymorphisms.Conclusion:Chromosome abnormality is one of the important causes to infertility,poor pregnancy and mental retardation.Chromosome examination should be carried out actively in the high risk population with the above clinical manifestations.

关 键 词：遗传咨询 染色体异常 核型分析 

分 类 号：R596.1[医药卫生—内科学]