摘要
目的分析SLCO1B1的主要突变388G>A和521T>C在南昌地区汉族原发性高脂血症人群中的分布。方法分别采用PCR-RFLP和ARMS-PCR方法对280名居住于南昌地区汉族原发性高脂血症患者SLCO1B1的388G>A和521T>C位点进行基因分型,并对其进行Hardy-Weinberg平衡检验。结果 280名受试者中,SLCO1B1的388G>A位点:110名为388G>A突变杂合子,141名为388G突变纯合子,分别占总人数的39.3%和50.3%,余29名为388A野生型纯合子,占总人数的10.4%,突变等位基因的发生频率为70.0%。521T>C位点:60名为521T>C突变型杂合子,6名为521C突变型纯合子,分别占总人数的21.4%和2.1%,余214名为521T野生型纯合子,占总人数的76.5%,突变等位基因的发生频率为12.9%。结论南昌地区汉族原发性高脂血症人群中的SLCO1B1 388G>A和521T>C突变与日本及中国汉族男性健康人群分布相似,388G>A突变率显著高于白人,521T>C突变率显著高于黑人。
Objective To investigate the distribution of SLCO1B1 388 G A and 521 T C variant alleles in nanchang han primary hyperlipidemia population. Methods In 280 nanchang han primary hyperlipidemia population. The 388GA polymorphism was genotyped with PCR-restriction fragment length polymorphism and the 521 T C mutation was genotyped with a 1-step tetra-primer method, and then be tested by Hardy-Weinberg equilibrium test. Results In the280 participants, as the SLCO1B1 388GA, 110 patients were with heterozygous 388GA mutations, 141 were with homozygous for the 388 G mutation, accounting for 39.3% and 50.3% of the total number respectively, the remaining 29 were wild homozygous for 388 A, accounting for 10.4%, the mutation frequencies of alleles was 70.0%. as the SLCO1B1521TC,60 patients were with heterozygous 521 T C mutations, 6 patients were homozygous for the 521 C mutation,accounting for 21.4% and 2.1% of the total number respectively, the remaining 214 were wild homozygous for 521 T,accounting for 76.5% of the total number, the mutation frequencies of alleles was 12.9%. Conclusion The frequencies of the 388GA and 521TC variant alleles were similar to that in the Japanese and Chianese healthy man population。And the mutation rate of 388GA was significantly higher than that of whites, the mutation rate of 521TC was significantly higher than that of black.
出处
《中国现代医生》
2014年第34期1-3,7,共4页
China Modern Doctor
