title: Hepatocyte nuclear factor-4 alpha gene mutations in Japanese non-insulin dependent diabetes mellitus (NIDDM) patients.
abstract: A mutation in the hepatocyte nuclear factor-4 alpha (HNF-4 alpha) gene has been recently reported to cause maturity-onset diabetes of the young (MODY) (Yamagata, Furuta, et al., 1996). The mutation can also be a good candidate for the responsible gene of non-insulin dependent diabetes mellitus (NIDDM). The existence of the mutated allele of Q268X (C to T substitution within the exon 7 of HNF-4 alpha gene) was searched in 514 alleles of Japanese NIDDM patients by polymerase chain reaction-restriction fragment length polymorphism analysis. No mutation was found in these patients. The result showed that the Q268X mutation of HNF-4 alpha gene was not frequent among general NIDDM patients and that it cannot serve as the major diabetogenic gene in the Japanese ethnic group.
authors.affiliation: Second Department of Internal Medicine, Osaka University Medical School, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nakajima
authors.forename: I
authors.initials: I
authors.lastname: Yoshiuchi
authors.forename: T
authors.initials: T
authors.lastname: Hamaguchi
authors.forename: K
authors.initials: K
authors.lastname: Tomita
authors.forename: T
authors.initials: T
authors.lastname: Yamasaki
authors.forename: K
authors.initials: K
authors.lastname: Iizuka
authors.forename: K
authors.initials: K
authors.lastname: Okita
authors.forename: M
authors.initials: M
authors.lastname: Moriwaki
authors.forename: A
authors.initials: A
authors.lastname: Ono
authors.forename: T
authors.initials: T
authors.lastname: Oue
authors.forename: Y
authors.initials: Y
authors.lastname: Horikawa
authors.forename: R
authors.initials: R
authors.lastname: Shingu
authors.forename: J
authors.initials: J
authors.lastname: Miyagawa
authors.forename: M
authors.initials: M
authors.lastname: Namba
authors.forename: T
authors.initials: T
authors.lastname: Hanafusa
authors.forename: Y
authors.initials: Y
authors.lastname: Matsuzawa
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005091:Exons; D051557:Hepatocyte Nuclear Factor 4; D006801:Humans; D007564:Japan; D009154:Mutation; D010750:Phosphoproteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; D051557:Hepatocyte Nuclear Factor 4; C403128:MLX protein, human; D010750:Phosphoproteins; D014157:Transcription Factors