内含子或外显子缺失DMD家系女性携带者的基因诊断  

Carrier genetic diagnosis of intron and/or exon-deletion Duchenne muscular dystrophy by microsatellite analysis and quantitative polymerase chain reaction

作　　者：黄文[1,2] 张成[1] 谢有梅 陈松林[1] 张为西[1] 姚晓黎[1] 曾缨[1] 卢锡林[1] 

机构地区：[1]中山大学医学院附属第一医院神经内科,广州510080 [2]广西医科大学附属第一医院神经内科 [3]Department of Neurology, University of North Carolina,Chapel Hill,North Carolina,NC,27599, USA

出　　处：《中华医学遗传学杂志》2007年第1期72-75,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30170337,30370510）、广东省自然科学基金（970061）、教育部骨干教师基金（20002349）及卫生部临床学科重点项目（2001321）

摘　　要：目的 对内含子和（或）外显子缺失的Duchenne型肌营养不良症（Duchenne muscular dystrophy，DMD）家系女性成员进行致病基因携带者的诊断，为进一步行产前诊断或植入前遗传学诊断提供准确的信息。方法 利用dystrophin基因5个微卫星位点（STR-44、45、49、40、5’DysⅡ）的多态性连锁分析，同时结合半定量PCR对1个内含子和外显子均缺失的DMD家系（家系5）和1个仅内含子缺失的DMD家系（家系4）的女性成员进行携带者基因诊断。结果 家系5的Ⅱ2的STR-50位点基因型为245／245，不是DMD基因携带者6家系4的Ⅱ6、Ⅱ8的STR-45位点基因型为dd／172，Ⅲ19为del／178，均为DMD基因携带者。结论 STR-PCR多态性分析结合内含子半定量PCR可获得更多诊断信息，更准确地检出内含子缺失的女性携带者，提高诊断率。Objective To detect the female carders from the intron and/or exon-deletion Duchenne/Becker musclular dystrophy （DMD） familial members for prenatal or preimplantation genetic diagnosis. Methods Using method d PCR to five microsatellite markers （located in 5＇ terminus and intron 44, 45, 49, 50）, analysing of the short tandem repeat sequence polymorphism with the genescan and binding with the quantitative polymerase chain reaction, we detected the DMD carders from 1 intron and exon -deletion family and 1 intron-deletion family. Results The STR-50 genotype of Ⅱ 2 in family 5 was 245/245, so Ⅱ 3 is DMD gene cartier. The STR-45 genotype of Ⅱ6 and Ⅱ8 were del/172, Ⅲ 19 was del/178, so they were all DMD gene carders. Conclusion The SIR haploid linkage analysis combined with quantitative polymerase chain reaction is accurate and efficient to detect the female carriers from the intron and/or exon-deletion DMD familial members.

关 键 词：肌营养不良症 短串联重复序列多态性 定量聚合酶链反应 携带者检测 

分 类 号：R686[医药卫生—骨科学]