- VernacularTitle:强直性肌营养不良1型三核苷酸重复序列的检测
- Author:
Yun LI
1
;
Yu-wei DA
Author Information
- Publication Type:Journal Article
- MeSH: 3' Untranslated Regions; Adolescent; Adult; Alleles; Case-Control Studies; Female; Humans; Male; Middle Aged; Myotonic Dystrophy; genetics; Trinucleotide Repeats; Young Adult
- From: Chinese Journal of Medical Genetics 2012;29(1):16-18
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo establish an efficient method which can be easily used for detecting CTG trinucleotide repeats in myotonic dystrophy type 1 (DM1).
METHODSTri-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.
RESULTSAll patients were found to have carried pathologic alleles containing more than 100 CTG repeats, while the healthy controls have carried 5-37 CTG repeats.
CONCLUSIONTP-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.