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目的 :探讨陕西地区老年动脉粥样硬化 (AS)群体 Rb基因内含子 17多态性分布 ,及其该位点与 AS遗传易感性的关系。方法 :应用 PCR对 10 0例老年 AS患者及 10 0例对照组老年人 Rb基因内含子 17Xba I酶切位点的限制性片段长度多态性 (RFL P)进行对比分析。结果 :在 AS组及对照组中该位点共检出 2种等位基因片段 :945 bp(S1 )及 6 30 bp加 315 bp(S2 ) . AS组基因频率 S1:0 .46 ,S2 :0 .5 4,对照组基因频率 S1 :0 .42 ,S2 :0 .5 8;二者的等位基因频率无显著差异。结论 :Rb基因内含子 17Xba I酶切位点在 AS群体中稳定性较高 ,不易发生突变 ,对 AS的形成、发展可能影响较小
Objective: To investigate the distribution of Rb intron 17 polymorphism in the elderly population of atherosclerosis (AS) in Shaanxi Province and its relationship with genetic susceptibility to AS. Methods: Restriction fragment length polymorphism (RFLP) of 17Xba I in Rb gene of 10 elderly AS patients and 10 0 control subjects was compared by PCR. Results: Two alleles were detected in the AS group and control group: 945 bp (S1) and 6 30 bp plus 315 bp (S2) 0 .5 4, the control group gene frequency S1: 0 .42, S2: 0. 58; the two allele frequencies were not significantly different. CONCLUSION: The 17xba I restriction site of Rb gene is highly stable in AS population, which is not likely to be mutated and may have less effect on the formation and development of AS