title: DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray.
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.
authors.affiliation: Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. ching-wanlam@cuhk.edu.hk
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Kitty Kit-Ting
authors.initials: KK
authors.lastname: Cheung
authors.forename: Nai-Ming
authors.initials: NM
authors.lastname: Luk
authors.forename: Shirley Wen
authors.initials: SW
authors.lastname: Chan
authors.forename: Kuen-Kong
authors.initials: KK
authors.lastname: Lo
authors.forename: Sui-Fan
authors.initials: SF
authors.lastname: Tong
mesh_terms: D000328:Adult; D001483:Base Sequence; D005260:Female; D023281:Genomics / Q000379:methods*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D014983:Xeroderma Pigmentosum / Q000175:diagnosis* / Q000235:genetics*