Direct sequencing and analysis of exons of Wilson' disease gene with the most mutations: a study in Hunan Han patients.
- Author:
Kai-Zhong LUO
1
;
Xu YANG
;
De-Jun TONG
;
Gang HE
;
Lu-Xi YI
Author Information
- Publication Type:Journal Article
- MeSH: Adenosine Triphosphatases; genetics; Adolescent; Asian Continental Ancestry Group; genetics; Cation Transport Proteins; genetics; Child; Copper-transporting ATPases; DNA; genetics; DNA Mutational Analysis; Exons; Hepatolenticular Degeneration; ethnology; genetics; Humans; Mutation
- From: Chinese Journal of Hepatology 2006;14(12):920-923
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect hot point mutations of ATP7B gene in Hunan Han patients with Wilson' disease (WD).
METHODSThe genomic DNA of 22 WD patients was extracted and exons 5, 8, 12, 13 were amplified by PCR. Screening for the mutations was done by direct sequencing and analysed by BLAST.
RESULTSFifteen of the 22 patients were found with mutations. Ten heterozygous Arg778Leu (2273G --> T) mutations were found in exon 8, all of them were accompanied with 2250C --> G polymorphism (Leu770Leu). Seven patients were found with 2855G --> A (Arg952Lys) polymorphism (4 heterozygous and 3 homozygous), 3 of them had Arg778Leu mutation in exon 8 and one with heterozygous mutation Gly943Asp (2828G --> A) in exon 12 simultaneously. Only one patient was found with heterozygous Pro992Leu (2975C --> T) mutation in exon 13. No mutations were found in exon 5.
CONCLUSIONArg778Leu is the hot point mutation of ATP7B gene in Hunan Han patients with Wilson' disease while exon 5 is not.
