[Detection for trinucleotide repeats in myotonic dystrophy type 1].
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 3'-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.


CONCLUSIONS
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.
Department of Neurology, Xuanwu Hospital, Capital University of Medical Sciences, Beijing 100053, P. R. China. dayuwei100@hotmail.com.
Yun
Y
Li
Yu-wei
YW
Da
D020413:3' Untranslated Regions; D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000235:genetics*; D018911:Trinucleotide Repeats; D055815:Young Adult
D020413:3' Untranslated Regions