1. ^*Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
2. ^†Social Hygiene Service, Department of Health, Hong Kong Special Administrative Region, Hong Kong, China

Correspondence: Ching-Wan Lam, Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. Email: ching-wanlam@cuhk.edu.hk

Received 7 June 2004; Revised 30 August 2004; Accepted 2 September 2004; Published online 21 December 2004.

Abstract

In this study, we have established the molecular basis of xeroderma pigmentosum (XP) in two unrelated Chinese families. In the first patient with consanguineous parents, we mapped the disease-causing locus XPC using single-nucleotide polymorphism microarray. Mutational analysis of the XPC gene showed that the patient is homozygous for a nonsense mutation, E149X. After developing DNA-based diagnosis of XPC, we screened another XP patient for XPC mutations. We found that the second patient is a compound heterozygote of 1209delG and Q554X in this gene. These are the first XPC-causing mutations identified in Chinese patients.