Allele Dropout in PCR-Based Diagnosis of Wilson Disease: Mechanisms and Solutions From: Clinical Chemistry | Date: March 1, 2006| Author: Mak, Chloe M; Lam, Ching-Wan | Copyright American Association for Clinical Chemistry Mar 2006. Provided by ProQuest LLC.Copyright information

Background: We investigated the mechanisms leading to allele dropout-the nonamplification of 1 of the alleles-in PCR-based diagnosis of Wilson disease (WD).

Methods: We extracted genomic DNA from blood samples from 6 WD patients (P1-P6) with allele dropouts detected in a previous study of WD in a Hong Kong Chinese population. We amplified the ATP7B gene by PCR and performed direct DNA sequencing of all exons of the ATP7B gene. To support the proposed mechanism of allele dropout, we use...

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