ＡＢＣＡ１基因Ｒ２１９Ｋ多态性与广西汉族心血管疾病的关系
摘要：目的：探讨ATP结合盒转运子A1（ATP-Binding Cassette Transporter 1，ABCA1）基因R219K多态性与广西汉族心血管疾病的关系。方法：采用PCR-RFLP技术，对无血缘关系的心血管疾病人群113例和非心血管疾病人群61例的ABCA1基因R219K位点G→A（Arg219Lys）进行检测，分析其基因多态性。结果：在心血管疾病组中，除HDL比非心血管疾病组低外，其余血脂指标均高，其中TC、LDL与ApoB在两组间的差异有统计学意义(P<0.05)。广西汉族心血管疾病人群的RK型频率最高，RR型次之，KK型频率最低；心血管疾病组的KK基因型频率（0.129）低于非心血管疾病组(0.148)，但差异无统计学意义(P>0．05)。RR、RK和KK三种基因型的血脂水平差异没有统计学意义(P>0．05)，女性心血管疾病人群KK型的HDL比RR型的高(P>0.05)，而KK型的TG和VLDL比RR型低(P<0.05)。结论：ABCA1基因R219K变异对心血管疾病可能具有保护作用，但具体保护机制及ABCA1基因R219K在心血管疾病人群中基因型分布频率也有待于更大样本的观察和进一步深入研究。
关键词：ABCA1基因；单核苷酸多态性（SNP）；心血管疾病
中图分类号： R541 文献标识码： A 文章编号： 1008-2409(2007)06-1169-04
Relationship between the R219K Polymorphism of ATP-Binding Cassette Transporter 1 Gene and cardiovascular disease/HUANG Jian, HUANG Wen-Xin, XIA Zhong-Hua,et al.∥Department of Biochemistry,Guilin Medical College,Guilin 541004, China
Abstract:Objective:To investigate the relationship between the R219K polymorphism of ATP-Binding Cassette Transporter 1 gene and cardiovascular disease in Han population of Guangxi. Methods:PCR-RFLP was used to examine ABCA1 gene R219K polymorphism G→A(Arg219Lys) of 113 non-blood-related patients with cardiovascular disease and 61 without cardiovascular disease. Results:The findings showed that except that the HDL level in the cardiovascular disease group was lower than that in the control group, and the other blood lipid levels in the former group were higher than those in the latter group, among which the differences in TC, LDL, and ApoB...
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