title: DNA polymorphisms of the insulin receptor gene in Japanese subjects with non-insulin-dependent diabetes mellitus.
abstract: Genotypes identified by two restriction fragment length polymorphisms (RFLPs) of the insulin receptor gene (IRG) with the restriction endonuclease Sst-1 were determined in a Japanese group comprising 51 patients with non-insulin-dependent diabetes mellitus (NIDDM) and 50 control subjects. Southern hybridization using a probe for the beta subunit of the human IRG identifies 4 alleles, termed S1(+) (5.3 kb), S1(-) (5.8 kb), S2(+) (7.0 and 2.4 kb) and S2(-) (9.4 kb). The frequencies of genotypes possessing the S1(-) allele in Japanese controls and Japanese NIDDM patients were 0.11 and 0.16, respectively. Unlike the previously reported association of the S1(-) allele with NIDDM found in Caucasians there was no significant difference in the frequency of the S1(-) allele between non-diabetic and NIDDM Japanese patients. There was a significant difference in the frequency of the S2(+) allele between Caucasian control subjects (0.14) and Japanese controls (0.0) and NIDDM patients (0.02).
authors.affiliation: Medical Professorial Unit, St. Bartholomew's Hospital, London, UK.
authors.forename: S R
authors.initials: SR
authors.lastname: Li
authors.forename: R S
authors.initials: RS
authors.lastname: Oelbaum
authors.forename: J
authors.initials: J
authors.lastname: Stocks
authors.forename: D J
authors.initials: DJ
authors.lastname: Galton
mesh_terms: D044466:Asian People / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D004739:England; D005260:Female; D005787:Gene Frequency; D005796:Genes; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D011972:Receptor, Insulin / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D011972:Receptor, Insulin