荧光原位杂交技术在检测染色体异常来源成分中的应用价值  

Application of fluorescence in situ hybridization in detecting telomere of chromosome abnormality

作　　者：韦小妮 康涵 王文丹 吕康模 

机构地区：[1]柳州市妇幼保健院医学遗传科,广西柳州545001 [2]成都市妇女儿童中心医院产前诊断中心,四川成都610091

出　　处：《中国优生与遗传杂志》2018年第2期33-35,共3页Chinese Journal of Birth Health & Heredity

基　　金：广西壮族自治区卫生和计划生育委员会自筹经费科研项目(NO:Z2015192)

摘　　要：目的探讨荧光原位杂交技术在检测染色体异常来源成分中的应用价值。方法对2例经外周血淋巴细胞培养行染色体核型分析结果不明来源染色体片段异常者,采用亚端粒(subtelomere)探针荧光原位杂交技术进行检测。结果明确诊断了2例染色体片段异常均为染色体相互易位,并鉴定出了易位的片段来源。结论亚端粒探针荧光原位杂交技术可以协助常规G显带染色体核型分析检测出小片段、难以辨认的染色体易位,对协助临床遗传咨询有重要意义。Objective：To study the application value of fluorescence in situ hybridization（FISH）in detecting the component of chromosome abnormality. Methods：Unkown chromosome segments by karyotype analysis of cultured peripheral blood lymphocyte were detected by the subtelomere probe fluorescence in situ hybridization. Results：Two cases of chromosome abnormality were diagnosed according to the source of chromosome translocations. Conclusion：The subtelomere probe FISH can assist regular G banding＇s karyotype analysis in detecting small and illegible chromosome abnormalities and have important role in clinical genetic counseling.

关 键 词：荧光原位杂交 亚端粒探针 染色体异常 相互易位 自然流产 

分 类 号：R596.1[医药卫生—内科学]