动脉粥样硬化易感性与Rb基因多态性相关性研究

Relationship between polymorphism of Rb gene and atherosclerosis susceptibility

目的 探讨人类动脉粥样硬化 (atheroscleosis,AS)的遗传易感性与 Rb基因 (intron2 0 )多态性的相关性 .方法 采用病例 -对照分子流行病学方法 ,以 PCR- STR技术 ,分析了10 7例动脉粥样硬化患者和 68例老年对照组进行 Rb基因内含子 2 0多态性的检测 .结果 在动脉粥样硬化群体发现 :等位基因片段 18个 ,片段大小在 390～ 2 60 bp之间 ,重复片段大小为 5 bp,杂合率为 0 .62 ,PIC(信息量 ) :0 .91.与对照组比较该位点多态分布差异有显著性 (P<0 .0 5 ) ,其中 :>310 bp片段增多 (AS:40 .2 % ,对照 :2 8.7% ) ,VNTR重复数量 :动脉粥样硬化群体 >对照群体 ;PIC增高 (AS:91% ,对照 :85 % ) ;杂合率降低 (AS:61.7% ,对照 :67.6% ) .结论 Rb基因 VNTR重复数量的增多可能是老年人易患动脉粥样硬化的因素之一 .

AIM To study whether polymorphism of Rb gene is associated with genetic susceptibility of human atheroscleosis. METHODS Polymorphism of Rb gene (intron 20) STR was examined in 107 cases with atherosclerosis and 68 controls by polymerase chain reaction (PCR). RESULTS There were 18 alleles ranging from 260 bp to 390 bp in AS. Repeat base was 5. The heterozygosity of Rb (intron 20) locus was 0.62. Polymorphism information comtents (PIC) were 0.91. Distribution of genetic polymorphism of Rb gene (intron 20) VNTR was significantly different between AS and controls ( P <0.05), the number of >310 bp fragment increased (AS: 40.2%, control: 28.7%). Number of repeat: atherosclerosis>control. PIC raised (AS: 91%, control: 85%), and heterozygosity decreased (AS:61.7%, control: 67.6%). CONCLUSION Polymorphism of Rb gene VNTR might be an important risk for genetic susceptibility of human atherosclerosis.