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Simple and effective strategies for detection of allele dropout in PCR-based diagnosis of Wilson disease.

Drs. Lam and Mak, in a recent article in this journal (1), described the mechanisms leading to allele dropout in the PCR-based diagnosis of Wilson disease (WD) and reported potential solutions to this problem. We propose 2 strategies that would enable unequivocal and rapid identification of allele dropout in WD.

In WD, an autosomal recessive disorder, mutations in the ATP7B gene lead to accumulation of copper in the liver and the brain (2). In PCR-based detection of WD carriers and presymptomatic individuals in affected families, the presence of numerous single-base variations in the ATP7B gene gives rise to allele dropout, the nonamplification of one of the alleles (1). In WD compound heterozygotes, if the wild-type allele corresponding to an identified mutation fails to amplify, the PCR product shows apparent homozygosity, leading to faulty diagnosis. Screening the entire ATP7B gene to exclude allele dropout, as recommended by Lam and Mak (1), is an arduous job because ATP7B is ∼80 kb long with 21 exons and a coding length of more than 6.5 …