Nakajima H, Yoshiuchi I, Hamaguchi T, Tomita K, Yamasaki T, Iizuka K, Okita K, Moriwaki M, Ono A, Oue T, Horikawa Y, Shingu R, Miyagawa J, Namba M, Hanafusa T, Matsuzawa Y
Second Department of Internal Medicine, Osaka University Medical School, Japan.
Res Commun Mol Pathol Pharmacol. 1996 Dec;94(3):327-30.
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.
最近有报道称，肝细胞核因子-4α（HNF-4α）基因的突变会导致青年发病的成年型糖尿病（MODY）（山形、古田等人，1996年）。该突变也可能是2型糖尿病（NIDDM）致病基因的有力候选者。通过聚合酶链反应-限制性片段长度多态性分析，在514个日本2型糖尿病患者的等位基因中搜索了Q268X突变等位基因（HNF-4α基因第7外显子内的C到T替换）。在这些患者中未发现突变。结果表明，HNF-4α基因的Q268X突变在普通2型糖尿病患者中并不常见，且在日本人群中它不能作为主要的致糖尿病基因。
