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강한 가족력을 갖는 한국인 조기발병 2형 당뇨병 환자에서 Hepatocyte Nuclear Factor-1α유전자의 다형성
DC Field | Value | Language |
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dc.contributor.author | 강은석 | - |
dc.contributor.author | 김경래 | - |
dc.contributor.author | 안영수 | - |
dc.contributor.author | 안철우 | - |
dc.contributor.author | 이현철 | - |
dc.contributor.author | 임승길 | - |
dc.contributor.author | 차봉수 | - |
dc.date.accessioned | 2016-05-16T11:28:34Z | - |
dc.date.available | 2016-05-16T11:28:34Z | - |
dc.date.issued | 2002 | - |
dc.identifier.issn | 1015-6461 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/144633 | - |
dc.description.abstract | Background: Maturity-onset diabetes of the young (MODY) is a genetically heterogenous subtype of type 2 diabetes characterized by an early onset, usually before 25 years of age, autosomal dominant inheritance and a primary defect in insulin secretion. Mutation of the hepatocyte nuclear factor-1α (HNF-1α) gene is known to be a cause of MODY3. This study was carried out to reveal whether HNF-1α gene polymorphism is a common cause of early-onset type 2 diabetes and MODY in the Korean population. Methods: Members of 12 pedigrees families with MODY and early-onset of type 2 diabetes were selected for the mutation detection. All of the families involved had at least two members with type 2 diabetes diagnosed before the age of 40 years, where the diabetes was inherited as an autosomal dominant trait, with at least 3 generations of diabetic subjects. Genomic DNA was extracted from whole-blood samples. The 10 exons and the promotor of the HNF-1α gene were sequenced. Results: In codon 17 of exon 1, 2 of the 10 control subjects and 5 of the 12 patients had nucleotide replacement where the CTC nucleotide was replaced by the CTG (p=0.381). This is a silent mutation where both the CTC and CTG code have the same amino acid leucine. In codon 27 of exon 1, 5 patients had a silent mutation, where the codon ATC is replaced by CTC and the amino acid changes from isoleucine to leucine, but no mutation was found in the control group (p=0.040). In codon 459 of exon 7, 2 of the controls and 3 of the patient group had a silent mutation (CTG → TTG) that were both codon code leucine (p=1.000). Another missense mutation was observed in codon 487 of exon 7. Nucleotide AGC (serine) was replaced by AAC (asparagines). This mutation was observed in 5 control subjects and 10 patients (p=0.172). Conclusion: This study did not reveal a new HNF-1α gene polymorphism. We conclude that the HNF-1α gene polymorphism does not play a major role in the early-onset of type 2 diabetes with a strong family history in Korea. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 328~335 | - |
dc.relation.isPartOf | Journal of Korean Diabetes Association (당뇨병) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 강한 가족력을 갖는 한국인 조기발병 2형 당뇨병 환자에서 Hepatocyte Nuclear Factor-1α유전자의 다형성 | - |
dc.title.alternative | Polymorphism of the Hepatocyte Nuclear Factor-1α Gene in the Early-onset of Type 2 Diabetes Mellitus with a Strong Family History in Korea | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학) | - |
dc.contributor.googleauthor | 강은석 | - |
dc.contributor.googleauthor | 이시훈 | - |
dc.contributor.googleauthor | 조정산 | - |
dc.contributor.googleauthor | 안철우 | - |
dc.contributor.googleauthor | 차봉수 | - |
dc.contributor.googleauthor | 임승길 | - |
dc.contributor.googleauthor | 김경래 | - |
dc.contributor.googleauthor | 이현철 | - |
dc.contributor.googleauthor | 허갑범 | - |
dc.contributor.googleauthor | 안영수 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00068 | - |
dc.contributor.localId | A00294 | - |
dc.contributor.localId | A02246 | - |
dc.contributor.localId | A02270 | - |
dc.contributor.localId | A03301 | - |
dc.contributor.localId | A03375 | - |
dc.contributor.localId | A03996 | - |
dc.relation.journalcode | J01508 | - |
dc.subject.keyword | Hepatocyte nuclear factor-1α | - |
dc.subject.keyword | Maturity onset diabetes mellitus | - |
dc.subject.keyword | Early onset diabetes mellitus | - |
dc.subject.keyword | Mutation | - |
dc.contributor.alternativeName | Kang, Eun Seok | - |
dc.contributor.alternativeName | Kim, Kyung Rae | - |
dc.contributor.alternativeName | Ahn, Young Soo | - |
dc.contributor.alternativeName | Ahn, Chul Woo | - |
dc.contributor.alternativeName | Lee, Hyun Chul | - |
dc.contributor.alternativeName | Lim, Sung Kil | - |
dc.contributor.alternativeName | Cha, Bong Soo | - |
dc.contributor.affiliatedAuthor | Kang, Eun Seok | - |
dc.contributor.affiliatedAuthor | Kim, Kyung Rae | - |
dc.contributor.affiliatedAuthor | Ahn, Young Soo | - |
dc.contributor.affiliatedAuthor | Ahn, Chul Woo | - |
dc.contributor.affiliatedAuthor | Lee, Hyun Chul | - |
dc.contributor.affiliatedAuthor | Lim, Sung Kil | - |
dc.contributor.affiliatedAuthor | Cha, Bong Soo | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 26 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 328 | - |
dc.citation.endPage | 335 | - |
dc.identifier.bibliographicCitation | Journal of Korean Diabetes Association (당뇨병), Vol.26(5) : 328-335, 2002 | - |
dc.identifier.rimsid | 51318 | - |
dc.type.rims | ART | - |
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