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Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
Journal of Human Genetics ( IF 3.5 ) Pub Date : 2000-10-24 , DOI: 10.1007/s100380070015 C.-C. Lee , J.-Y. Wu , F.-J. Tsai , H. Kodama , T. Abe , C.-F. Yang , C.-H. Tsai
Journal of Human Genetics ( IF 3.5 ) Pub Date : 2000-10-24 , DOI: 10.1007/s100380070015 C.-C. Lee , J.-Y. Wu , F.-J. Tsai , H. Kodama , T. Abe , C.-F. Yang , C.-H. Tsai
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.
更新日期：2019-11-01
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