TY - JOUR
T1 - 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
AU - Nishigori, Hidekazu
AU - Yamada, Shirou
AU - Kohama, Tomoko
AU - Utsugi, Toshihiro
AU - Shimizu, Hiroyuki
AU - Takeuchi, Toshiyuki
AU - Takeda, Jun
PY - 1998
Y1 - 1998
N2 - 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.
AB - 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.
KW - Direct sequencing
KW - Maturity-onset diabetes of the young (MODY)
KW - Mutation screening
UR - http://www.scopus.com/inward/record.url?scp=0031626719&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031626719&partnerID=8YFLogxK
U2 - 10.1007/s100380050049
DO - 10.1007/s100380050049
M3 - Article
C2 - 9621514
AN - SCOPUS:0031626719
VL - 43
SP - 107
EP - 110
JO - Jinrui idengaku zasshi. The Japanese journal of human genetics
JF - Jinrui idengaku zasshi. The Japanese journal of human genetics
SN - 1434-5161
IS - 2
ER -