[Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia].
OBJECTIVE
To detect mutations of guanosine triphosphate cyclohydrolase I (GCH1) gene in Chinese patients with dopa responsive dystonia (DRD).


METHODS
Six sporadic patients with DRD were examined. GCH1 gene mutations were detected using polymerase chain reaction (PCR), DNA sequence analysis and restriction enzyme digestion analysis. One hundred normal people were detected using PCR and restriction enzyme digestion analysis.


RESULTS
A new point mutation, 151(G-->A) in exon one was found in a patient. It lead to substitution of a methionine for isoleucine at amino acid 1(M1I). This mutation was not found in normal control people.


CONCLUSIONS
The authors report a new heterozygotic point mutation 151(G-->A) in GCH1 gene. There are GCH1 gene mutations in Chinese sporadic patients with DRD.
Li
Jing
J
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
Tang
Bei-sha
BS
Guo
Ji-feng
JF
Zhang
Yu-hu
YH
Xie
Zhi-guo
ZG
Yan
Xin-xiang
XX
Shen
Lu
L
Jiang
Hong
H
Zhang
Xue-wei
XW
Xia
Kun
K
Pan
Qian
Q
D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004295:Dihydroxyphenylalanine / Q000627:therapeutic use*; D004421:Dystonia / Q000188:drug therapy* / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
D004295:Dihydroxyphenylalanine; D004247:DNA; D006136:GTP Cyclohydrolase