Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia.
- Author:
Yafang ZHOU
1
;
Xingwang SONG
;
Jiping YI
;
Hong JIANG
;
Junling WANG
;
Shusheng LIAO
;
Beisha TANG
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Cohort Studies; Guanine Nucleotide Exchange Factors; genetics; Humans; Mutation; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Spectrin; genetics; Spinocerebellar Ataxias; genetics
- From: Chinese Journal of Medical Genetics 2008;25(6):646-648
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in spinocerebellar ataxia (SCA) patients in China.
METHODSThe single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was detected by PCR, digested with EcoN I, separated on 8% polyacrylamide gel in 68 probands of autosomal dominant SCA families and 119 sporadic SCA patients, who had been excluded CAG/CAA repeat expansion at the SCA1, 2, 3, 6, 7, 17 and dentatorubral-pallidolluysian atrophy (DRPLA) loci. The results were confirmed in four patients by direct sequencing.
RESULTSThe single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was not identified in authors' cohort.
CONCLUSIONThe mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China.
