The Prevalence of Maturity Onset Diabetes of the Young(MODY) 3 in Children with Type 2 Diabetes Mellitus / 소아과
Korean Journal of Pediatrics
;
: 641-646, 2004.
Article
in Korean
| WPRIM
| ID: wpr-117247
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)-1alpha. 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/m(2)) less than 95th percentile. Genomic DNA was extracted from blood samples. We analyzed HNF-1alpha for mutation by DNA microarray method and direct sequencing.RESULTS:
We found one case with a mutation of the promoter region of HNF-1alpha(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-1alpha 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pancreas
/
Wills
/
C-Peptide
/
DNA
/
Family Characteristics
/
Prevalence
/
Fasting
/
Promoter Regions, Genetic
/
Oligonucleotide Array Sequence Analysis
/
Hepatocytes
Type of study:
Prevalence study
/
Risk factors
Limits:
Adult
/
Child
/
Humans
Language:
Korean
Journal:
Korean Journal of Pediatrics
Year:
2004
Type:
Article
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