Li Yun, Da Yu-wei
Department of Neurology, Xuanwu Hospital, Capital University of Medical Sciences, Beijing 100053, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Feb;29(1):16-8. doi: 10.3760/cma.j.issn.1003-9406.2012.01.005.
To establish an efficient method which can be easily used for detecting CTG trinucleotide repeats in myotonic dystrophy type 1 (DM1).
Tri-primer polymerase chain reaction (TP-PCR) combined with electropherogram was used to detect CTG repeats in the 3'-untranslated region of DMPK gene. Twenty non-related DM1 patients and 24 healthy controls were selected.
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.
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.
建立一种易于用于检测1型强直性肌营养不良症（DM1）中CTG三核苷酸重复序列的高效方法。
采用三引物聚合酶链反应（TP-PCR）结合电泳图谱检测DMPK基因3'非翻译区的CTG重复序列。选取20例无血缘关系的DM1患者和24例健康对照。
所有患者均携带含100多个CTG重复序列的病理等位基因，而健康对照携带5-37个CTG重复序列。
TP-PCR结合电泳图谱可为检测DM1患者的病理等位基因提供一种高度灵敏、特异且准确的方法，该方法耗时少且易于操作。
