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目的 进一步了解 2型糖尿病胰岛素抵抗的发生机理。方法 运用聚合酶链反应及单链构型多态性 (PCR- SS-CP)技术 ,分析 4个 2型糖尿病家系、5 2例 2型糖尿病患者及 5 4例正常对照者的胰岛素受体基因第 17及 2 0外显子的变异。结果 17外显子 10 0 8位甘氨基 (Gly)的 GGC→ GGT多态性频率在 2型糖尿病家系及群体分别为 18%和 2 9.4% ,而正常对照组为 9.3% (χ2 =12 .7133,P<0 .0 0 0 5 )。与正常对照组比较 ,2型糖尿病家系、群体的相对危险性分别为 RR=1.944 ,RR=3.738。家系连锁分析显示 L OD最大值为 0 .46 5 736 (θ=0 .0 0 0 0 )。 2 0外显子 Gly的 116 9位 GGT→ GGC多态性频率在 2型糖尿病家系、群体及正常对照组分别为 10 .0 %、15 .4%和 3.7% (χ2 =3.2 36 ,P>0 .0 5 ) ,该位点在 2型糖尿病家系、群体的相对危险性分别为 RR=2 .70 0 ,RR=3.92 7。家系连锁分析显示 L OD最大值为 1.80 334 (θ=0 .0 0 0 0 )。结论 Gly1 0 0 8和 Gly1 1 6 9位点多态性可能是 2型糖尿病的遗传标志。
Objective To further understand the pathogenesis of type 2 diabetes with insulin resistance. Methods Polymerase chain reaction and single strand conformation polymorphism (PCR-SS-CP) were used to analyze the insulin receptor gene in four type 2 diabetic families, 52 type 2 diabetic patients and 54 normal controls Variation of exons 17 and 20. Results The frequency of GGC → GGT polymorphism of exon 10 108 Gly was 18% and 2 9.4% in type 2 diabetes pedigrees and groups, respectively, compared with 9.3% in normal controls (χ2 = 12. 7133, P <0 0 0 5). Compared with the normal control group, the relative risk of type 2 diabetes pedigrees and groups were respectively RR = 1.944 and RR = 3.738. Family linkage analysis showed that the maximum value of L OD was 0.46 5 736 (θ = 0.0000). The frequency of GGT → GGC polymorphism at 116 9 of exon Gly was 10. 0%, 15 .4% and 3.7% in type 2 diabetic families and controls, respectively (χ2 = 3.236, P> 0.05). The relative risk of this locus in type 2 diabetes pedigrees was RR = 2.70 0, RR = 3.92 7. Family linkage analysis showed a maximum LOD of 1.80 334 (θ = 0.0000). Conclusion The Gly1 0 0 8 and Gly1 1 6 9 polymorphisms may be the genetic markers of type 2 diabetes.