DNA-based diagnosis of xeroderma pigmentosum group C by whole-genome scan using single-nucleotide polymorphism microarray

JOURNAL OF INVESTIGATIVE DERMATOLOGY

卷:124

Article

Lam, CW ; Cheung, KKT ; Luk, NM ; Chan, SW ; Lo, KK ; Tong, SF

关键词: homozygosity mapping;    single-nucleotide polymorphism microarray;    whole-genome scan;    xeroderma pigmentosum;   

DOI  :  10.1111/j.0022-202X.2004.23563.x

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

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