[Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia].
OBJECTIVE
To study the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in spinocerebellar ataxia (SCA) patients in China.


METHODS
The 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.


RESULTS
The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was not identified in authors' cohort.


CONCLUSIONS
The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China.
Zhou
Yafang
Y
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P. R. China.
Song
Xingwang
X
Yi
Jiping
J
Jiang
Hong
H
Wang
Junling
J
Liao
Shusheng
S
Tang
Beisha
B
D044466:Asian People / Q000235:genetics*; D015331:Cohort Studies; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D013049:Spectrin / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics*
D020662:Guanine Nucleotide Exchange Factors; C503982:PLEKHG4 protein, human; D013049:Spectrin