PCR结合毛细管电泳技术用于FMR1基因前突变家系分析  

Pedigree analysis of pre-mutation of FMR1 gene by PCR combined with capillary electrophoresis technique

作　　者：谢建红[1] 余洁[1] 胡利清[1] 周玉球[1] 陈兴[1] 邱显荣[1] XIE Jianhong;YU Jie;HU Liqing;ZHOU Yuqiu;CHEN Xing;QIU Xianrong(Department of Clinical Laboratory,Zhuhai Municipal Maternity and ChildHealthcare Hospital,Zhuhai,Guangdong 519001,China)

机构地区：[1]广东省珠海市妇幼保健院检验科

出　　处：《检验医学与临床》2019年第15期2117-2119,共3页Laboratory Medicine and Clinic

基　　金：广东省医学科学技术研究基金项目(A2016361)

摘　　要：目的应用PCR结合毛细管电泳技术检测FMR1基因CGG重复数并对一个前突变家系进行分析。方法采用PCR结合毛细管电泳方法检测FMR1基因前突变家系成员的CGG重复数。结果咨询者CGG重复数为54/55,父亲为56,母亲为32/55,妹妹为33/58,弟弟为54,丈夫为37。结论PCR结合毛细管电泳技术能快速检测FMR1基因CGG重复数,并能对FMR1基因前突变进行准确诊断。Objective To detect the CGG gene repetition number of FMR1 gene by polymerase chain reaction (PCR) combined with capillary electrophoresis technique and to analyze a family of pre-mutation . Methods PCR combined with capillary electrophoresis technique was adopted to detect the CGG repetition number of the members in a family of FMR1 gene pre-mutation. Results The results:the CGG repetition number of consultant was 54/55,the father was 56,the mother was 32/55,the sister was 33/58,the brother was 54 and the husband was 37. Conclusion PCR combined with capillary electrophoresis technique can rapidly detect the CGG repition numberof FMR1 gene and conduct the accurate diagnosis of FMR1 gene pre-mutation.

关 键 词：脆性X综合征 FMR1基因 前突变 PCR 毛细管电泳 

分 类 号：R446.9[医药卫生—诊断学]