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Germline mutation of the STK 11 gene in Korean Peutz-Jegher syndrome patients

DC FieldValueLanguage
dc.contributor.author김남규-
dc.date.accessioned2019-11-11T05:03:24Z-
dc.date.available2019-11-11T05:03:24Z-
dc.date.issued2000-
dc.identifier.issn0007-0920-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/171577-
dc.description.abstractPeutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited disease characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation, with an increased risk for various neoplasms, including gastrointestinal cancer. Recently, the PJS gene encoding the serine/threonine kinase STK11 (also named LKB1) was mapped to chromosome 19p13.3, and germline mutations were identified in PJS patients. We screened a total of ten Korean PJS patients (nine sporadic cases and one familial case including two patients) to investigate the germline mutations of the STK11 gene. By polymerase chain reaction-single-strand conformation polymorphism and DNA sequencing analysis, three kinds of mis-sense mutation and a frame-shift mutation were identified: codon 232 (TCC to CCC) in exon 5, codon 256 (GAA to GCA) in exon 6, codon 324 (CCG to CTG) in exon 8, and a guanine insertion at codon 342 resulting in a premature stop codon in exon 8. These mis-sense variants were not detected in 100 control DNA samples. Furthermore, we found an intronic mutation at the dinucleotide sequence of a splice-acceptor site: a one base substitution from AG to CG in intron 1, which may cause aberrant splicing. Most reported germline mutations of the STK11 gene in PJS patients were frame-shift or non-sense mutations resulting in truncated proteins. Together, these findings indicate that germline mis-sense mutations of the STK11 gene are found in PJS patients in addition to truncating mutations. The effects of these mutations on protein function require further examination. In summary, we found germline mutations of the STK11 gene in five out of ten Korean PJS patients.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherNature Publishing Group on behalf of Cancer Research UK-
dc.relation.isPartOfBritish Journal of Cancer-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHAdult-
dc.subject.MESHAge of Onset-
dc.subject.MESHAsian Continental Ancestry Group/genetics-
dc.subject.MESHBase Sequence-
dc.subject.MESHCodon-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHExons-
dc.subject.MESHFemale-
dc.subject.MESHFrameshift Mutation-
dc.subject.MESHGerm-Line Mutation*-
dc.subject.MESHHumans-
dc.subject.MESHKorea-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation, Missense-
dc.subject.MESHPeutz-Jeghers Syndrome/genetics*-
dc.subject.MESHPolymerase Chain Reaction-
dc.subject.MESHPolymorphism, Single-Stranded Conformational-
dc.subject.MESHProtein-Serine-Threonine Kinases/genetics*-
dc.titleGermline mutation of the STK 11 gene in Korean Peutz-Jegher syndrome patients-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Surgery (외과학교실)-
dc.contributor.googleauthorK-A Yoon-
dc.contributor.googleauthorJ-L Ku-
dc.contributor.googleauthorHS Choi-
dc.contributor.googleauthorSC Heo-
dc.contributor.googleauthorS-Y Jeong-
dc.contributor.googleauthorYJ Park-
dc.contributor.googleauthorNK Kim-
dc.contributor.googleauthorJC Kim-
dc.contributor.googleauthorPM Jung-
dc.contributor.googleauthorJ-G Park-
dc.identifier.doi10.1054/bjoc.1999.1125-
dc.contributor.localIdA00353-
dc.relation.journalcodeJ00406-
dc.identifier.eissn1532-1827-
dc.identifier.pmid10780518-
dc.subject.keywordPeutz–Jeghers syndrome-
dc.subject.keywordSTK11-
dc.subject.keywordgermline mutation-
dc.contributor.alternativeNameKim, Nam Kyu-
dc.contributor.affiliatedAuthor김남규-
dc.citation.volume82-
dc.citation.number8-
dc.citation.startPage1403-
dc.citation.endPage1406-
dc.identifier.bibliographicCitationBritish Journal of Cancer, Vol.82(8) : 1403-1406, 2000-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers

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