Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.
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.
Xu
Q
Q
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, China.
Li
X H
XH
Wang
J L
JL
Jiang
H
H
Zhang
S
S
Lei
L F
LF
Shen
L
L
Xia
K
K
Pan
Q
Q
Long
Z G
ZG
Tang
B S
BS
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
D035181:TATA-Box Binding Protein; C509817:TBP protein, human