[Gene diagnosis and CAG repeat analysis of spinocerebellar ataxia cases of Guangxi region].
To characterize the distributions and subtypes of the spinocerebellar ataxias (SCA) in Guangxi region, the SCAl, SCA2, SCA3/MJD, SCA6, SCA7 and SCA12 (CAG)n mutations were analyzed by polymerase chain reaction (PCR) and capillary electrophoresis (CE). The SCA3/MJD mutation was detected in a total of 21 SCA patients and 19 presymptomatic individuals from 6 SCA families and their CAG repeat numbers were 59-70 and 60-73, respectively. No (CAG)n mutations of SCA1, SCA2, SCA6, SCA7 and SCA12 were detected. This study showed that SCA in Guangxi region is mostly SCA3/MJD subtype and the CAG repeats are smaller than those reported in other regions previously.
Tan
Jian-Qiang
JQ
Guangxi Medical University, Nanning 530021, China. tjq198103@163.com
Wang
Ping
P
Hu
Qi-Ping
QP
Li
Song-Feng
SF
Shu
Wei
W
Ma
Jun
J
Fang
Ling
L
Hua
Rong
R
Ding
Ye
Y
Yuan
Zhi-Gang
ZG
D000328:Adult; D000368:Aged; D002681:China; D019411:Clinical Laboratory Techniques; D004252:DNA Mutational Analysis / Q000379:methods*; D019075:Electrophoresis, Capillary; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics*; D055815:Young Adult