糖尿病家系及群体胰岛素受体基因变异的对照研究
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The Comparison Analysis of Variations in Insulin Receptor Gene in Chinese Pedigrees and Individuals with Type 2 Diabetes Mellitus
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    摘要:

    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。

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    Objective To have a good understanding of insulin resistance in type 2 diabetes. Methods Four families with type 2 diabetes and fifty-two type 2 diabetic patients, fifty-four non-diabetic healthy subjects were examined with the technique of PCR-SSCP and DNA direct sequencing in exon 17 and 20 of insulin receptor gene. Results In exon 17, the frequency of the variation in codon 1008 (Gly GGC→GGT) was 18.0%, 29.4%and 9.3%(χ2=12.713 3, P<,0.000 5) in pedigrees, patients and controls respectively. The relative risk (RR) in pedigrees and diabetic patients was 1.944 and 3.738 in comparison with controls group. Linkage analysis in the pedigrees show the maximal LOD score was 0.465 736 (θ=0.000 0). In exon 20, the frequency of the variation in codon 1169 (Gly GGT→GGC) was 10.0%, 15.4%and 3.7%(χ2=3.236, P>,0.05). The RR was 2.700 and 3.927 in pedigrees and diabetic patients in comparison with controls group. Linkage analysis in the pedigrees show the maximal LOD score was 1.803 34 (θ=0.000 0). Conclusion The results suggest the two detected variations in GLY1008and GLY1169might be genetic markers for susceptibility to type 2 diabetes.

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袁孝如,裴曙光,李晓璐,庄旻,陈家伟,丁国宪,马立隽,沈捷,马向华.糖尿病家系及群体胰岛素受体基因变异的对照研究[J].南京医科大学学报(自然科学版),2000,20(01):

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