17种世界首报染色体异常核型遗传分析及与脆性部位关系分析  

Genetic analysis of 17 abnormal karyotypes of the first reported in the world and the relationship between abnormal karyotypes and fragile Sites

作　　者：张清健[1] 郑立新[1] 田佩玲[1] 叶嘉玲[1] 杨卫[1] 王柏贤[1] 徐珊珊[1] 周冰燚[1] 赵文忠[1] 蔡慧娜[1] 方俊宇[1] 朱志勇[1] 

机构地区：[1]广东省计划生育科学技术研究所优生科,广东广州510600

出　　处：《中国实验诊断学》2014年第2期203-205,共3页Chinese Journal of Laboratory Diagnosis

基　　金：广东省计生委项目(编号:2008009)

摘　　要：目的探讨不育患者中世界首报染色体异常核型与不孕不育及脆性部位的关系。方法采用外周血淋巴细胞染色体培养技术,常规G显带核型分析。结果在2911例不育患者中,共检出异常染色体核型353例,其中世界首次发现染色体异常核型17例,其中平衡易位16例,染色体臂间倒位1例。17例世界首报核型中有15个断裂位点为染色体的脆性部位,所占比例高达44.1%(15/34)。结论染色体异常是导致不良孕产、不孕不育的重要原因之一。染色体断裂位点与脆性部位有紧密的关系。Objective To investigate the relationship between novel abnormal karyotypes and infertility in infertile patients and the relationship between abnormal karyotypes and fragile sites.Methods Chromosome specimens were made using routine culture of peripheral blood lymphocytes.Karyotyping was conducted mainly by G banding.Results 353 cases abnormal chromosomes were observed in 2911 cases of infertile patients.And 17 cases of novel abnormal karyotypes were observed,including 16 cases of balanced translocation and 1 case of pericentric inversion.15 fracture locus from 17 cases of abnormal karyotypes were chromosome fragile sites,the proportion is as high as 44.1 % （15/34）.Conclusion Chromosome abnormality is one of main factors for abnormal pregnancy and infertility.There is a close relationship between chromosomal breakpoints and fragile sites.

关 键 词：世界首报 核型分析 脆性部位 

分 类 号：R711.6[医药卫生—妇产科学]