强直性肌营养不良1型三核苷酸重复序列的检测  

Detection for trinucleotide repeats in myotonic dystrophy type 1

作　　者：李韵[1] 笪宇威[1] 

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《中华医学遗传学杂志》2012年第1期16-18,共3页Chinese Journal of Medical Genetics

基　　金：北京市卫生系统高层次卫生技术人才培养计划（2009-3-58）

摘　　要：目的探索适合临床应用的检测强直性肌营养不良1型（myotonic dystrophy type1，DM1）三核苷酸重复序列的有效方法。方法联合应用三引物PCR（tri-primer polymerase chain reaction，TP-PCR）和毛细管电泳法检测DMl患者的DMPK基因非翻译区内的三核苷酸CTG重复序列。共检测20例来自19个家系临床病理诊断为DM的患者和24名健康对照。结果20例患者的DMPK基因3’端的CTG重复拷贝数大于100，24名正常对照的拷贝数均介于5-37之间。结论TP-PCR和毛细管电泳法联合检测DMPK基因三核苷酸重复具有准确、快速、特异性高的优点，适合在临床推广。Objective To establish an efficient method which can be easily used for detecting CTG trinucleotide repeats in myotonic dystrophy type 1 （DM1）. Methods Tri-primer polymerase chain reaction （TP-PCR） combined with electropherogram was used to detect CTG repeats in the 3r-untranslated region of DMPK gene. Twenty non-related DM1 patients and 24 healthy controls were selected. Results All patients were found to have carried pathologic alleles containing more than 100 CTG repeats, while the healthy controls have carried 5-37 CTG repeats. Conclusion TP-PCR combined with electropherograms may provide a highly sensitive, specific and accurate method which is less time-consuming and easier to perform for the detection of pathologic alleles in DM1 patients.

关 键 词：三引物PCR 强直性肌营养不良1型 CTG三核苷酸重复 

分 类 号：R746.2[医药卫生—神经病学与精神病学]