Study on relationship between CAG repeat in ITI5 gene and clinical phenotype of Huntington's disease
- VernacularTitle:IT15基因CAG重复次数与亨廷顿病临床表型的相关性
- Author:
Yu-Xin WANG
;
Ben-Shu ZHANG
;
- Publication Type:Journal Article
- Keywords:
Huntington disease;
Nerve tissue proteins;
Nuclear proteins;
Repetitive sequences,nucleic acid;
Polymorphism(genetic);
Age of onset
- From:
Chinese Journal of Neurology
2005;0(08):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect the relationship between CAG repeat in IT15 gene and clinical manifestations of Huntington's disease (HD).Methods Non-denaturing polyacrylamide gel electro- phoresis method was used to detect CAG repeat.Clinical manifestations were scored by UHDRS and MMSE. Results Genotypes of IT15 were heterozygous in all 29 HD patients.CAG repeat in the HD chromosome, being 42—62,13—28 in normal chromosome,was inversely correlated with age of onset (r=-0.539,P
