Article

A novel mutation in the hepatocyte nuclear factor-1alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan.

Department of Pathology and Laboratory Medicine, Veterans General Hospital-Taipei, National Yang-Ming University, Taiwan, ROC.
Diabetic Medicine (impact factor: 2.9). 06/2000; 17(5):390-3. pp.390-3
Source: PubMed

ABSTRACT The goal of this study was to determine the frequency of mutation in hepatic nuclear factor (HNF)-1alpha, a gene recently implicated as causing maturity-onset diabetes of the young (MODY) and to analyse the respective clinical presentations in an ethnically Chinese population.
Fifteen unrelated subjects (nine females and six males) aged less than 35 years who had early-onset diabetes were analysed to test the possibility that mutation of the HNF-1alpha gene was responsible for this disorder. Genomic DNA extraction, polymerase chain reaction and DNA sequence analysis were performed accordingly.
One patient with MODY had a novel missense mutation in exon 3 of the HNF-1alpha gene (Y218C) in a region of the protein that corresponds to a predicted DNA binding domain.
A Y218C mutation in HNF-1alpha gene was identified in one family in Taiwan.

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Keywords

DNA sequence analysis
 
ethnically Chinese population
 
exon 3
 
females
 
Genomic DNA extraction
 
hepatic nuclear factor
 
HNF-1alpha gene
 
males
 
maturity-onset diabetes
 
MODY
 
polymerase chain reaction
 
predicted DNA binding domain
 
respective clinical presentations