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Mutation in hepatocyte nuclear factor-1α is not a common cuase of MODY and early-onset type 2 diabetes in Korea

DC FieldValueLanguage
dc.contributor.author안철우-
dc.contributor.author이현철-
dc.date.accessioned2016-02-19T11:07:32Z-
dc.date.available2016-02-19T11:07:32Z-
dc.date.issued2001-
dc.identifier.issn0940-5429-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/142452-
dc.description.abstractMaturity-onset diabetes of the young (MODY)-3 with a mutation in hepatocyte nuclear factor (HNF)-1α has been identified in most races, but the prevalence of Korean MODY and early-onset type 2 diabetes with a mutation in this gene is unknown. To determine the prevalence of MODY and early-onset type 2 diabetes with the mutation of HNF-1α gene in Korea, we analyzed this gene in 69 Korean early-onset type 2 diabetics and in 35 healthy persons using the single-strand conformation polymorphism (SSCP) technique and direct sequencing. We identified one mutation in exon 4 (C900A) in only one of the 69 Korean subjects with early-onset type 2 diabetes; this mutation was silent and did not change the amino acid (Pro300). Additionally, we identified four polymorphisms: S487N, AAC→AGC, intron 2 (nt −23), intron 7: (nt +7) and intron 9 (nt −24). However, there was no significant difference in frequencies of the four polymorphisms between the type 2 diabetes and control groups. Among type 2 diabetics, codon 487 variant showed no relationship to age at onset, body mass index, fasting blood glucose. HbA1c, lipid profile, basal C-peptide and 2 hour C-peptide. We concluded that this genetic mutation in HNF-1α gene may not be a common contributor to MODY and early-onset type 2 diabetes susceptibility in Korea.-
dc.description.statementOfResponsibilityopen-
dc.format.extent123~127-
dc.relation.isPartOfActa Diabetologica-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleMutation in hepatocyte nuclear factor-1α is not a common cuase of MODY and early-onset type 2 diabetes in Korea-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Internal Medicine (내과학)-
dc.contributor.googleauthorH. J. Lee-
dc.contributor.googleauthorC. W. Ahn-
dc.contributor.googleauthorS. J. Kim-
dc.contributor.googleauthorY. D. Song-
dc.contributor.googleauthorS. K. Lim-
dc.contributor.googleauthorK. R. Kim-
dc.contributor.googleauthorH. C. Lee-
dc.contributor.googleauthorK. B. Huh-
dc.identifier.doi10.1007/s005920170008-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA02270-
dc.contributor.localIdA03301-
dc.relation.journalcodeJ00013-
dc.identifier.urlhttp://link.springer.com/article/10.1007/s005920170008-
dc.contributor.alternativeNameAhn, Chul Woo-
dc.contributor.alternativeNameLee, Hyun Chul-
dc.contributor.affiliatedAuthorAhn, Chul Woo-
dc.contributor.affiliatedAuthorLee, Hyun Chul-
dc.rights.accessRightsnot free-
dc.citation.volume38-
dc.citation.number3-
dc.citation.startPage123-
dc.citation.endPage127-
dc.identifier.bibliographicCitationActa Diabetologica, Vol.38(3) : 123-127, 2001-
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실)

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