Mutations in the hepatocyte nuclear factor-1α gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese

被引：0

作者：

Hidekazu Nishigori

Shirou Yamada

Tomoko Kohama

Toshihiro Utsugi

Hiroyuki Shimizu

Toshiyuki Takeuchi

J. Takeda

机构：

[1] Department of Cell Biology,

[2] Institute for Molecular and Cellular Regulation,undefined

[3] Gunma University,undefined

[4] 3-39-15 Showa-machi,undefined

[5] Maebashi,undefined

[6] Gunma 371-8512,undefined

[7] Japan Tel. +81-272-20-8830; Fax +81-272-20-8889 e-mail: jtakeda@akagi.sb.gunma-u.ac.jp,undefined

[8] ,undefined

[9] Department of Molecular Medicine,undefined

[10] Institute for Molecular and Cellular Regulation,undefined

[11] Gunma University,undefined

[12] Department of Pediatrics,undefined

[13] Gunma University School of Medicine,undefined

[14] Maebashi,undefined

[15] Gunma,undefined

[16] Japan,undefined

[17] Department of Laboratory Medicine,undefined

[18] Gunma University School of Medicine,undefined

[19] Maebashi,undefined

[20] Gunma,undefined

[21] Japan,undefined

[22] First Department of Internal Medicine,undefined

[23] Gunma University School of Medicine,undefined

[24] Maebashi,undefined

[25] Gunma,undefined

[26] Japan,undefined

[27] Second Department of Internal Medicine,undefined

[28] Gunma University School of Medicine,undefined

[29] Maebashi,undefined

[30] Gunma,undefined

[31] Japan,undefined

来源：

Journal of Human Genetics | 1998年 / 43卷

关键词：

Key words Maturity-onset diabetes of the young (MODY); Mutation screening; Direct sequencing;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Maturity-onset diabetes of the young (MODY3), a monogenic subtype of non-insulin-dependent diabetes mellitus (NIDDM) with an early age of onset, is characterized by a primary defect in insulin secretion. Recently, it has been shown that mutations of the gene encoding the transcription factor hepatocyte nuclear factor-1α (HNF-1α) cause MODY3. Since NIDDM in Japanese is characterized by insulin secretory defects due to primary β-cell dysfunction, we screened 60 Japanese nonobese subjects with early-onset NIDDM for mutations in this gene, 45 of whom had a first-degree relative with NIDDM. Direct sequencing of the ten exons and flanking introns of the gene in these subjects identified eight nucleotide substitutions including two amino acid changes, Ile-27-Leu and Ser-487-Asn, the frequencies of which were not significantly different in subjects with early-onset NIDDM and nondiabetic subjects. These results suggest that mutations in the HNF-1α gene are not a major cause of early-onset NIDDM in Japanese.

引用

页码：107 / 110

页数：3