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

J Invest Dermatol. 2005 Jan;124(1):87-91. doi: 10.1111/j.0022-202X.2004.23563.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Female
  • Genomics / methods*
  • Humans
  • Male
  • Molecular Sequence Data
  • Oligonucleotide Array Sequence Analysis*
  • Polymorphism, Single Nucleotide*
  • Xeroderma Pigmentosum / diagnosis*
  • Xeroderma Pigmentosum / genetics*