RESUMO
The liver/islet glucose transporter (GLUT2) is mainly expressed in the hepatocytes of the liver and the beta-cells of the pancreatic islets and a defect in this transporter could lead to diabetic phenotypes, such as relative hypoinsulinaemia and reduced uptake and metabolism of glucose in the liver. DNA from unrelated individuals was digested with the restriction endonucleases Bgl-I and Taq-I followed by blotting and hybridisation with a 32P-labelled GLUT2 cDNA which revealed three restriction fragment length polymorphisms (RFLPs) (B1, T1 and T2) in both Caucasian and West Indian populations. Linkage analysis between these variant sites demonstrated that the alleles of these polymorphisms were in strong linkage disequilibrium. Disease association of genetic variants at the GLUT2 locus with type 2 diabetes was examined with these RFLPs in both Caucasian (n = 54) and West Indian (n = 46) populations with type 2 diabetes. There were no significant differences in the frequency of alleles, genotypes or haplotypes between diabetic patients and non-diabetic controls. However, there were significant differences in the allele frequencies of all these three polymorphisms between Caucasian and West Indian populations.
Assuntos
Diabetes Mellitus Tipo 2/genética , Glucose/metabolismo , Proteínas de Transporte de Monossacarídeos/genética , Polimorfismo de Fragmento de Restrição , Idoso , Alelos , Desoxirribonucleases de Sítio Específico do Tipo II , Ligação Genética , Genótipo , Haplótipos , Humanos , Ilhotas Pancreáticas/química , Fígado/química , Londres/etnologia , Pessoa de Meia-Idade , Índias Ocidentais/etnologia , População Branca/genéticaRESUMO
Digestion of human genomic DNA with the restriction enzyme StuI revealed a 2-allele polymorphism with a human HepG2 glucose transporter probe. Bands of 3.2 kilobases (kb; S1 allele) and 2.6 kb (S2 allele) were observed. The genotype frequencies were investigated in 2 non-insulin-dependent diabetic populations. The genotype frequencies of S1S1, S1S2 and S2S2 were 6, 42 and 52% among Caucasian diabetic subjects (n = 48), and 11, 38 and 51% in 47 controls, respectively. In West Indian diabetic patients (n = 48), the genotype frequencies were 17, 54 and 29%, and for 36 controls they were 25, 33 and 42%, respectively. The polymorphism information content of this restriction fragment length polymorphism (RFLP) is 0.32 in Caucasians and 0.37 in West Indians, respectively. There was no significant difference of allele or genotype frequencies between the diabetic patients and non-diabetic controls in either group. Haplotype analysis of the StuI and XbaI RFLPs showed that there was also no significant difference in the frequencies of the four different haplotypes S1X1, S1X2, S2X1 and S2X2 between the patients and controls. However, there was a difference for the frequency of the S1 allele between Caucasians (controls 30%, patients 27%) and West Indians (controls 42%, patients 44%). There was also a significant difference in the frequency of haplotype S2X2 between these two racial groups (controls 48%, cases 51% for Caucasians, and controls 33%, cases 22% for West Indians).
Assuntos
Alelos , População Negra/genética , Diabetes Mellitus Tipo 2/genética , Proteínas de Transporte de Monossacarídeos/genética , População Branca/genética , Feminino , Humanos , Londres , Masculino , Polimorfismo de Fragmento de Restrição , Índias Ocidentais/etnologiaRESUMO
Digestion of human genomic DNA with the restriction enzyme Stul revealed a 2-allele polymorphism with a human HepG2 glucose transporter probe. Bands of 3.2 kilobases (kb; SI allele) and 2.6 kb (S2 allele) were observed. The genotype frequencies were investigated in 2 non-insulin-dependent diabetic populations. The gene type frequencies of S1S1, S1S2 and S2S2 were 6, 42 and 52 percent among Caucasian diabetic subjects (n=48), and 11, 38 and 51 percent in 47 controls, respectively. In West Indian diabetic patients (n=48), the genotype frequencies were 17, 54 and 29 percent, and for 36 controls they were 25, 33 and 42 percent, respectively. The polymorphism information content of this restriction fragment length polymorphism (RFLP) is 0.32 in Caucasians and 0.37 in West Indians, respectively. There was no significant difference of allele or genotype frequencies between the diabetic patients and non-diabetic controls in either group. Haple type analysis of Stul and Xbal RFPLs showed that there was also no significant difference in the frequencies of the four different haplotypes S1X1, S1X2, S2X1 and S2X2 between the patients and controls. However there was a difference for the frequency of the S1 allele between Caucasians (control 30 percent, patients 27 percent) and West Indians (controls 42 percent, patients 44 percent). There was also a significant difference in the frequency of haplotype S2X2 between these two racial groups (controls 48 percent, cases 51 percent for Caucasians, and controls 33 percent, cases 22 percent for West Indians). (AU)