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소아 제 2형 당뇨병 환아에서 Maturity Onset Diabetes of the Young(MODY) 3의 유병률에 관한 연구

Other Titles
 The Prevalence of Maturity Onset Diabetes of the Young(MODY) 3 in Children with Type 2 Diabetes Mellitus 
Authors
 최인경  ;  김덕희  ;  정성영  ;  백상현  ;  허남  ;  김호성 
Citation
 Korean Journal of Pediatrics, Vol.47(6) : 641-646, 2004 
Journal Title
 Korean Journal of Pediatrics 
ISSN
 1738-1061 
Issue Date
2004
Keywords
Maturity-onset diabetes of the young(MODY) ; Hepatocyte nuclear factor(HNF)-1α ; Children ; Diabetes mellitus ; Type II ; Oligonucleotide Array Sequence analysis ; Direct sequencing
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.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Duk Hee(김덕희)
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Choi, In Kyong(최인경)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/112060
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