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- Title
DNA-Based Diagnosis of Xeroderma Pigmentosum Group C by Whole-Genome Scan Using Single-Nucleotide Polymorphism Microarray.
- Authors
Lam, Ching-Wan; Cheung, Kitty Kit-Ting; Luk, Nai-Ming; Chan, Shirley Wen; Lo, Kuen-Kong; Tong, Sui-Fan
- 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 locusXPCusing single-nucleotide polymorphism microarray. Mutational analysis of theXPCgene showed that the patient is homozygous for a nonsense mutation, E149X. After developing DNA-based diagnosis of XPC, we screened another XP patient forXPCmutations. 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.
- Subjects
XERODERMA pigmentosum; DNA; GENETIC mutation; SKIN abnormalities; NUCLEIC acids; GENETIC polymorphisms
- Publication
Journal of Investigative Dermatology, 2005, Vol 124, Issue 1, p87
- ISSN
0022-202X
- Publication type
Article
- DOI
10.1111/j.0022-202X.2004.23563.x