Molecular Diagnosis of Wilson Disease Using Prevalent Mutations and Informative Single-Nucleotide Polymorphism Markers

Abstract

Background: Wilson disease (WD) is an autosomal recessive disorder caused by defects in the ATPase, Cu²⁺ transporting, β-polypeptide gene (ATP7B) resulting in accumulation of copper in liver and brain. WD can be thwarted if detected at a presymptomatic stage, but occasional recombination during carrier detection with dinucleotide repeat markers flanking the WD locus may lead to faulty diagnosis. We examined the use of intragenic single-nucleotide polymorphism (SNP) markers to avoid this limitation.