title: Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
abstract: Wilson disease (WND) is caused by a deficiency of the copper-transporting enzyme, P-type ATPase (ATP7B). Twelve different mutations have previously been identified in Taiwan Chinese with Wilson disease. We, herein, report another 4 missense mutations, 1 of which is novel. We did haplotype analysis of Taiwanese WND chromosomes, using three well characterized short tandem repeat markers (haplotype was assigned in the order of D13S314-D13S301-D13S316). Association correlation was found between the mutations and their respective haplotypes. Haplotype-deduced pedigree analysis was shown to be helpful in the mutation analysis of WND chromosomes and in the molecular assessment of both pre-symptomatic WND patients and carriers. Given the complexity and heterogeneity of the mutation spectrum of ATP7B, we suggest that haplotype analysis should be performed before full-scale mutation analysis.
authors.affiliation: Department of Neurology, China Medical College Hospital, Taichung, Taiwan. dmrccl@ms18.hinet.net
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: J Y
authors.initials: JY
authors.lastname: Wu
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: H
authors.initials: H
authors.lastname: Kodama
authors.forename: T
authors.initials: T
authors.lastname: Abe
authors.forename: C F
authors.initials: CF
authors.lastname: Yang
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D005260:Female; D006239:Haplotypes; D006527:Hepatolenticular Degeneration / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D013624:Taiwan
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases