陕西地区老年动脉粥样硬化群体Rb基因XbaI酶切位点多态性研究

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

Rb gene XbaI polymorphism in relation to atherosclerosis in Shaanxi elder population

AIM: To investigate the relationship between the polymorphism of Rb (intron17) in elder population of Shaanxi and atherosclerosis(AS) genetic susceptibility. METHODS: The polymorphism of Rb (intron17) were examined in 100 elder AS individuals and 100 elder control samples in Shaanxi by using PCR Rb XbaI RFLP. RESULTS: There are 2 alletic fragments (945 bp, 630 bp 315 bp) were found in AS group and control group. S 1S 2 genotype was the most frequent one in the two populations. Allele frequency of AS group is S 1 0.46, S 2 0.54 and that of control group is S 1 0.42,S 2 0.58. Allele frequency was no differences in the two groups ( P >0 05). CONCLUSION: XbaI site of Rb (intron17) could have been certainly stable in AS population, we infered it was not liable to cause mutation, and the locus might not make a notable impact to the occurrence and development of AS.