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소아 제 2형 당뇨병 환아에서 Maturity Onset Diabetes of the Young(MODY) 3의 유병률에 관한 연구
DC Field | Value | Language |
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dc.contributor.author | 김덕희 | - |
dc.contributor.author | 김호성 | - |
dc.contributor.author | 최인경 | - |
dc.date.accessioned | 2015-07-14T17:01:40Z | - |
dc.date.available | 2015-07-14T17:01:40Z | - |
dc.date.issued | 2004 | - |
dc.identifier.issn | 1738-1061 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/112060 | - |
dc.description.abstract | Purpose : Maturity-onset diabetes of the young(MODY) is a subtype of type 2 diabetes defined by autosomal dominant mode of inheritance, onset of diabetes usually before the age of 25 yrs, and a primary defect in the function of the beta cells of the pancreas. MODY3 is known as the most common form and is caused by mutations in hepatocyte nuclear factor(HNF)-1α. We examined the prevalence of MODY3 in children with type 2 diabetes mellitus(DM). Methods : Children with type 2 DM(N=17) and their family members with type 2 DM(N=5) were enrolled. Inclusion criteria for the children were fasting C-peptide and postprandial C-peptide more than 1.0 ng/mL and 1.5 ng/mL respectively, familial type 2 DM in at least two generations, and body mass index(BMI)(kg/m2) less than 95th percentile. Genomic DNA was extracted from blood samples. We analyzed HNF-1 for mutation by DNA microarray method and direct sequencing. Results : We found one case with a mutation of the promoter region of HNF-1α(5'-ctaGGCTAGTGGGGTTTTGCGGGGGCAGTGGGTGCAAGG-3') in one child's family member among 22 children and adult subjects with type 2 DM. Conclusion : Although we found a mutation of HNF-1α in an adult family member with type 2 DM, we did not find this mutation in a child with type 2 DM. The further investigation of MODY in children, including other types, is required. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 641~646 | - |
dc.language | Korean | - |
dc.publisher | 대한소아과학회 | - |
dc.relation.isPartOf | Korean Journal of Pediatrics | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 소아 제 2형 당뇨병 환아에서 Maturity Onset Diabetes of the Young(MODY) 3의 유병률에 관한 연구 | - |
dc.title.alternative | The Prevalence of Maturity Onset Diabetes of the Young(MODY) 3 in Children with Type 2 Diabetes Mellitus | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학) | - |
dc.contributor.googleauthor | 최인경 | - |
dc.contributor.googleauthor | 김덕희 | - |
dc.contributor.googleauthor | 정성영 | - |
dc.contributor.googleauthor | 백상현 | - |
dc.contributor.googleauthor | 허남 | - |
dc.contributor.googleauthor | 김호성 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.relation.journalcode | J02100 | - |
dc.identifier.eissn | 2092-7258 | - |
dc.subject.keyword | Maturity-onset diabetes of the young(MODY) | - |
dc.subject.keyword | Hepatocyte nuclear factor(HNF)-1α | - |
dc.subject.keyword | Children | - |
dc.subject.keyword | Diabetes mellitus | - |
dc.subject.keyword | Type II | - |
dc.subject.keyword | Oligonucleotide Array Sequence analysis | - |
dc.subject.keyword | Direct sequencing | - |
dc.contributor.alternativeName | Kim, Duk Hee | - |
dc.contributor.alternativeName | Kim, Ho Seong | - |
dc.contributor.alternativeName | Choi, In Kyong | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 47 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 641 | - |
dc.citation.endPage | 646 | - |
dc.identifier.bibliographicCitation | Korean Journal of Pediatrics, Vol.47(6) : 641-646, 2004 | - |
dc.identifier.rimsid | 52920 | - |
dc.type.rims | ART | - |
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