期刊
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
卷 601, 期 1-2, 页码 171-178出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.mrfmmm.2006.06.010
关键词
xeroderma pigmentosum A (XPA); founder mutation; heterozygous carriers; Japanese population
资金
- Intramural NIH HHS [Z01 BC004517-31] Funding Source: Medline
- NCI NIH HHS [N01-CP-31012] Funding Source: Medline
Individuals who are homozygotes for mutations in DNA repair genes are at high risk for cancer. It is not well documented, however, if the heterozygous carriers of the mutation are also predisposed to cancer. To address the issue, xeroderma pigmentosum (XP) in Japan is an interesting candidate because of three major reasons: XP is an autosomal recessive disorder with an enormously elevated risk of skin cancer, the frequency of XP patients is higher in Japan than in other parts of the world, and more than half of Japanese XP patients are homozygous for the same founder mutation in the XPA gene. We screened archival blood samples from Japanese individuals who resided in Hiroshima or Nagasaki. A simple PCR-RFLP method was developed that is highly specific for detection of XPA heterozygotes carrying the founder mutation. We identified nine XPA heterozygotes among 1020 individuals screened for a prevalence of 0.88%. This rate, if representative, implies that there are about I million carriers of the XPA founder mutation in the Japanese population. Thus, investigation of their cancer risk may be warranted. (c) 2006 Elsevier B.V. All rights reserved.
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