Horm Metab Res 2001; 33(3): 163-166
DOI: 10.1055/s-2001-14936
Original Clinical
© Georg Thieme Verlag Stuttgart · New York

Genetic Variation in the Hepatocyte Nuclear Factor (HNF)-3α Gene Does Not Contribute to Maturity-Onset Diabetes of the Young in Japanese

L. Yu 1, 2 , Q. Wei 2 , L. Jin 2 , H. Nishigori 2 , T. Nishigori 2 , H. Tomura 2 , J. Fujita 1 , Y. Yamada 1 , Y. Seino 1 , J. Takeda 2
  • 1 Laboratory of Molecular Genetics, Department of Cell Biology, Institute for Molecular and Cellular Regulation, Maebashi, Gunma, Japan
  • 2 Department of Metabolism and Clinical Nutrition, Graduate School of Medicine, Kyoto University, Shogoin, Sakyo-ku, Kyoto, Japan
Further Information

Publication History

Publication Date:
31 December 2001 (online)

Heterozygous mutations in the genes encoding transcription factors in the hepatocyte nuclear factor (HNF) cascade are associated with maturity-onset diabetes of the young (MODY), a monogenic form of diabetes mellitus. However, these genes are responsible for only ∼ 20 % of the cases of MODY in Japanese patients. Searching for a novel MODY gene in this population, we investigated a candidate for encoding the forkhead transcription factor HNF-3α, which also belongs to the HNF-transcription cascade. The human HNF-3α gene, which was assigned to the segment near microsatellites D14S75 and AFM200ZH4 on chromosome 14 by radiation hybrid mapping, spans ∼ 5 kb and consists of two exons. Ninety-five Japanese subjects with MODY/early-onset non-ketotic diabetes were screened for mutations in this gene. Direct sequencing of the exons and flanking regions identified one missense mutation (Ala-83-Thr) in exon 2 and three nucleotide alterations in the non-coding regions. However, their frequencies were not significantly different between MODY and control subjects, indicating that mutations in the HNF-3α gene are not a major cause of MODY in Japanese patients.

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Jun Takeda,M.D. 

Laboratory of Molecular Genetics
Department of Cell Biology
Institute for Molecular and Cellular Regulation
Gunma University

3-39-15 Showa-machi
Maebashi, Gunma 371-8512
Japan


Email: E-mail:jtakeda@showa.gunma-u.ac.jp