DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray.
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.
Lam
Ching-Wan
CW
Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. ching-wanlam@cuhk.edu.hk
Cheung
Kitty Kit-Ting
KK
Luk
Nai-Ming
NM
Chan
Shirley Wen
SW
Lo
Kuen-Kong
KK
Tong
Sui-Fan
SF
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*