Study on gene mutation characteristics of a spinocerebellar ataxias family in Ningxia region
- VernacularTitle:宁夏地区脊髓小脑性共济失调家系基因突变特征的研究
- Author:
Xiao YANG
;
Xuewen FAN
;
Jin WANG
- Publication Type:Journal Article
- Keywords:
spinocerebellar ataxia;
gene mutation;
ttrinucleotide repeat
- From:
Journal of Clinical Neurology
2001;0(05):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the gene mutation characteristics of patients with spinocerebellar ataxias(SCA) in Ningxia region.Methods The SCA3/Machado-Joseph disease(MJD)trinucleotide CAG repeat number was detected by polymerase chain reaction(PCR),capillary gel electrophoresis(CGE) and DNA sequencing in 6 patients with SCAs and 4 normal kindreds from a family in Ningxia region.Results All patients and 1 kindred were positive for SCA3/MJD;other 3 kindreds were negative for SCA3/MJD.The CAG repeat number was expanded to 66～81 in the patients with SCA3/MJD and a kindred,and 22～33 in other 3 kindreds.Conclusion There is SCA3/MJD in the patients with SCAs of Ningxia region.Gene examining has the great significance for definite diagnosis in the patients with SCAs.
