Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia.
- Author:
Jing LI
1
;
Bei-sha TANG
;
Ji-feng GUO
;
Yu-hu ZHANG
;
Zhi-guo XIE
;
Xin-xiang YAN
;
Lu SHEN
;
Hong JIANG
;
Xue-wei ZHANG
;
Kun XIA
;
Qian PAN
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Case-Control Studies; DNA; genetics; DNA Mutational Analysis; Dihydroxyphenylalanine; therapeutic use; Dystonia; drug therapy; genetics; Exons; genetics; Female; GTP Cyclohydrolase; genetics; Humans; Male; Point Mutation; genetics; Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2007;24(3):302-304
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect mutations of guanosine triphosphate cyclohydrolase I (GCH1) gene in Chinese patients with dopa responsive dystonia (DRD).
METHODSSix 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.
RESULTSA 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.
CONCLUSIONThe authors report a new heterozygotic point mutation 151(G-->A) in GCH1 gene. There are GCH1 gene mutations in Chinese sporadic patients with DRD.
