title: Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.
abstract: Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant progressive neurodegenerative disease caused by the CAG/CAA expansion in the TATA box-binding protein (TBP) gene. This study aimed to assess the frequency of SCA17 in patients from mainland China. Analysis of CAG/CAA expansion in this gene was performed in 263 patients consisting of 100 probands with dominantly inherited ataxias and 163 patients with sporadic ataxias. Abnormal expansion of CAG/CAA repeats in the SCA17 locus was found in a proband and her younger sister. To our knowledge, we are providing the first kindred analysis of SCA17 in mainland China.
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, China.
authors: Q
authors: Q
authors: Xu
authors: X H
authors: XH
authors: Li
authors: J L
authors: JL
authors: Wang
authors: H
authors: H
authors: Jiang
authors: S
authors: S
authors: Zhang
authors: L F
authors: LF
authors: Lei
authors: L
authors: L
authors: Shen
authors: K
authors: K
authors: Xia
authors: Q
authors: Q
authors: Pan
authors: Z G
authors: ZG
authors: Long
authors: B S
authors: BS
authors: Tang
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D035181:TATA-Box Binding Protein / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D035181:TATA-Box Binding Protein; C509817:TBP protein, human