title: [Direct sequencing and analysis of exons of Wilson' disease gene with the most mutations: a study in Hunan Han patients].
abstract: OBJECTIVE
  To detect hot point mutations of ATP7B gene in Hunan Han patients with Wilson' disease (WD).
  
  
  METHODS
  The 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.
  
  
  RESULTS
  Fifteen 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.
  
  
  CONCLUSIONS
  Arg778Leu is the hot point mutation of ATP7B gene in Hunan Han patients with Wilson' disease while exon 5 is not.
authors.affiliation: Research Center for Liver Diseases, Second Xiangya Hospital, Central South University, Changsha 410011, China. luokz@hotmail.com
authors.forename: Kai-Zhong
authors.initials: KZ
authors.lastname: Luo
authors.forename: Xu
authors.initials: X
authors.lastname: Yang
authors.forename: De-Jun
authors.initials: DJ
authors.lastname: Tong
authors.forename: Gang
authors.initials: G
authors.lastname: He
authors.forename: Lu-Xi
authors.initials: LX
authors.lastname: Yi
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D044466:Asian People / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D006527:Hepatolenticular Degeneration / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D027682:Cation Transport Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases