HEPATOCYTE NUCLEAR FACTOR-4-ALPHA GENE-MUTATIONS IN JAPANESE NON-INSULIN-DEPENDENT DIABETES-MELLITUS (NIDDM) PATIENTS

A mutation in the hepatocyte nuclear factor-4 alpha (HNF-4 alpha) gene has been recently reported to cause maturity-onset diabetes of the yo ung (MODY) (Yamagata, Furuta, ct al., 1996). The mutation can also be a good candidate for the responsible gene of noninsulin dependent diab etes 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 reactio n-restriction fragment length polymorphism analysis. No mutation was f ound in these patients. The result showed that the Q268X mutation of H NF-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.