论文部分内容阅读
AIM:Recently,germ-line mutation in the base excisionrepair gene MYH has been identified to cause a novelautosomal recessive form of familial adenomatouspolyposis(FAP).Interestingly,a striking evidence forMYH mutations within different ethnic groups has beendemonstrated.In this study,we screened 30 patientswith multiple adenomatous polyps for MYH mutations toassess its prevalence and ethnic specificity in Korea.METHODS:Thirty patients(21 men and 9 women;mean age 62.3 years)with multiple adenomatous polypswere examined for MYH mutations.The mean number ofadenomas per patient was 10.0.Sixteen exonic regionsand their intronic sequences were amplified by PCR andsubjected to SSCP and DNA sequencing analyses.RESULTS:None of the patients was identified tocarry any truncating or sequence alterations in MYH.Our screening for the mutational regions,which wererecognized from Caucasian patients or affected Indianfamilies,also failed to detect sequence substitutions.CONCLUSION:Mutation in MYH may be rarely involvedin the pathogenesis of multiple sporadic colorectaladenomas in Korean population,although a large-scaleanalysis will be required to clarify the presence of specificMYH variants in a subset of patients and their role in thepredisposition of multiple colorectal adenomas in Koreanpopulation.
AIM: Recently, germ-line mutation in the base excisionrepair gene MYH has been identified to cause a novelautosomal recessive form of familial adenomatous polyposis (FAP) .Interestingly, a striking evidence forMHH mutations within different ethnic groups has been demonstrated. In this study, we screened 30 patients with multiple adenomatous polyps for MYH mutations toassess its prevalence and ethnic specificity in Korea. METHODS: Thirty patients (21 men and 9 women; mean age 62.3 years) with multiple adenomatous polypswere examined for MYH mutations. The mean number of adenomas per patient was 10.0 . Sixteen exonic regions and their intronic sequences were amplified by PCR and sub-ordered to SSCP and DNA sequencing analyzes .RESULTS: None of the patients was identified tocarry any truncating or sequence alterations in MYH. Our screening for the mutational regions, which wererecognized from Caucasian patients or affected Indianfamilies, also failed to detect sequence substitutions.CONCLUSION: Mutation in MYH may be rarely involving in the pathogenesis of multiple sporadic colorectaladenomas in Korean population, although a large-scale analysis will be required to clarify the presence of specificMYH variants in a subset of patients and their role in the predisposition of multiple colorectal adenomas in Koreanpopulation.