| Mutational Analysis of MYH in Patients with Multiple Sporadic Adenomatous Polyps in Korea |
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Hansoo Kim, Hyo-Jong Kim, Sung-Gil Chi, Gwang-Ro Joo, Seok-Ho Dong, Byung-Ho Kim, Young-Woon Chang, Jung-Il Lee, Rin Chang |
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Departments of Internal Medicine, Pathology, College of Medicine, Kyung Hee University, Seoul, Korea
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| 한국인 대장 선종성용종 환자에서의 MYH 유전자 변이에 대한 연구 |
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김한수, 김효종, 지성길, 주광로, 동석호, 김병호, 장영운, 이정일, 장린 |
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경희대학교 의과대학 내과학교실, 병리학교실 |
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| Abstract |
Background/Aims
Recently, germ-line mutation in the base-excision-repair gene MYH was identified to cause a novel autosomal recessive form of familial adenomatous polyposis (FAP). Interestingly, a striking evidence for MYH mutations within different ethnic groups has been demonstrated. We have screened 30 patients with multiple adenomatous polyps for MYH mutations to assess its prevalence and ethnic specificity in Korea. Methods: Thirty patients with multiple adenomatous polyps were examined for MYH mutations. Twenty-one men and 9 women presented at a median age of 62.3 years. The mean number of adenomas per patient was 10.0. Sixteen exonic regions and its intronic sequences were amplified by PCR and subjected to SSCP and DNA sequencing analyses. Results: None of the patients was identified to carry any truncating or sequence alterations in MYH. Our screening for the mutational regions, which were recognized from Caucasian patients or affected Indian families, also failed to detect sequence substitutions. Conclusions: Mutation in MYH may be rarely involved in the pathogenesis of multiple sporadic colorectal adenomas in Korea, although large-scale analysis will be required to clarify the presence of specific MYH variants in a subset of patients and its role for the predisposition of multiple colorectal adenomas in Korea. (Intest Res 2005;3:27-32) |
| Key Words:
MYH, Multiple adenomatous polyps, Germ-line mutation, Familial adenomatous polyposis, Ethnic difference |
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