Detection of the CAG trinucleotide repeats of MJD1 gene by recombinant DNA technology.
- Author:
Shen ZHANG
1
;
Jun-ling WANG
;
Qian XU
;
Xiao-hui LI
;
Li-fang LEI
;
Hong JIANG
;
Lu SHEN
;
Xin-xiang YAN
;
Qian PAN
;
Kun XIA
;
Bei-sha TANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Ataxin-3; Base Sequence; Female; Genetic Engineering; methods; Humans; Machado-Joseph Disease; genetics; Male; Middle Aged; Molecular Sequence Data; Nerve Tissue Proteins; genetics; Nuclear Proteins; genetics; Polymorphism, Genetic; Repressor Proteins; genetics; Sequence Analysis, DNA; Trinucleotide Repeats; Young Adult
- From: Chinese Journal of Medical Genetics 2009;26(4):406-409
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo establish a stable, accurate and intuitive method for detecting the CAG trinucleotide repeats of MJD1 gene.
METHODSThe CAG trinucleotide polymorphism of the MJD1 gene was analyzed by recombinant DNA technology and DNA sequencing in 35 spinocerebellar ataxia 3/Machado-Joseph disease (SCA3/MJD) patients from Mainland China.
RESULTSThe range of the CAG repeat of the 35 patients was 65-81 (mean = 72.96 +/- 4.24). The CAG repeats contained two CAAs and one AAG variations in the CAG motif in all the patients and majority of the healthy controls. There was a CGG/GGG polymorphism at the 3' end of the CAG repeat. The GGG allele was consistently associated with smaller CAG repeats in healthy controls. On the other hand, the CGG allele consistently existed in the patients.
CONCLUSIONRecombinant DNA technology can stably, accurately and intuitively detect the CAG trinucleotide repeat of the MJD1 gene. It should be used as a major technique to diagnose the SCA3/MJD and analyze the polymorphism of CAG sequence.
