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In searching for a genetic marker of type 2 diabetes we estimated the frequency of alleles of the Bgl II restriction fragment length polymorphism (RFLP) of the insulin receptor gene in a group of type II diabetic patients (n = 50), characterized by OGTT (glucose, insulin, C-peptide) and insulin receptor binding parameters. Leucocyte DNA was incubated with restriction endonuclease Bgl II and specific fragments were determined by Southern blot technique, using radioactive plasmid pINSR 13.1 as insulin receptor gene probe for hybridization. Insulin receptor numbers and receptor affinity were estimated by 125I-(Tyr-A-14)- insulin binding to red blood cells. Among control subjects the 20 kb fragment (allele Bgl II+) had a frequency of 0.21. In our group of diabetic patients this allele had a frequency of 0.10 (n.s., p greater than 0.05). In our study the insulin receptor genotype had no influence on body mass index, insulin and C-peptide during OGTT as well as insulin receptor binding data. So far, etiopathogenetic linkage between diabetes and insulin receptor variants (mutants) could unambiguously be proved in patients with extreme insulin resistance only. In our opinion, the estimation of the role of the gene as the reason underlying the disease inevitably requires the investigation of large families with multiple occurrence of type 2 diabetes.
S Menzel, and
C Neumer, and
S Zorad, and
I Klimes, and
H Langerova, and
E Svabova, and
L Macho, and
H Zühlke
March 1982,
Diabetes,
S Menzel, and
C Neumer, and
S Zorad, and
I Klimes, and
H Langerova, and
E Svabova, and
L Macho, and
H Zühlke
August 1988,
Diabetes,
S Menzel, and
C Neumer, and
S Zorad, and
I Klimes, and
H Langerova, and
E Svabova, and
L Macho, and
H Zühlke
September 1989,
Research communications in chemical pathology and pharmacology,
S Menzel, and
C Neumer, and
S Zorad, and
I Klimes, and
H Langerova, and
E Svabova, and
L Macho, and
H Zühlke
April 1995,
Thorax,
S Menzel, and
C Neumer, and
S Zorad, and
I Klimes, and
H Langerova, and
E Svabova, and
L Macho, and
H Zühlke
January 1990,
Biomedica biochimica acta,
S Menzel, and
C Neumer, and
S Zorad, and
I Klimes, and
H Langerova, and
E Svabova, and
L Macho, and
H Zühlke
January 2002,
Methods in molecular biology (Clifton, N.J.),
S Menzel, and
C Neumer, and
S Zorad, and
I Klimes, and
H Langerova, and
E Svabova, and
L Macho, and
H Zühlke
January 1990,
Experimental and clinical immunogenetics,
S Menzel, and
C Neumer, and
S Zorad, and
I Klimes, and
H Langerova, and
E Svabova, and
L Macho, and
H Zühlke
January 1992,
Diabetic medicine : a journal of the British Diabetic Association,
S Menzel, and
C Neumer, and
S Zorad, and
I Klimes, and
H Langerova, and
E Svabova, and
L Macho, and
H Zühlke
June 1986,
Research communications in chemical pathology and pharmacology,
S Menzel, and
C Neumer, and
S Zorad, and
I Klimes, and
H Langerova, and
E Svabova, and
L Macho, and
H Zühlke
January 1991,
Animal genetics,
