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目的研究ATP结合盒转运蛋白B1(ABCB1)基因C1236T多态性在皖南地区汉族自然人群中的频率分布及与血脂异常者各项血脂指标的相关性。方法根据血清总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)4项指标入选197例血脂异常患者和26例血脂正常受试者,采用PCRRFLP方法检测所有入选对象ABCB1基因C1236T位点的基因多态性,进行基因分型,比较血脂异常和血脂正常者的各基因型频率分布。对于具有血清总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)、载脂蛋白AI(apo AI)、载脂蛋白B(apo B)、脂蛋白(a)[LP(a)]完整7项血脂指标的177例血脂异常患者,比较各基因型之间各项血脂指标的差异。结果 ABCB1基因C1236T位点在皖南地区汉族人群有CC、CT、TT三种基因型,血脂异常人群3种基因型例数分别为21、78、98,血脂正常人群3种基因型例数分别为8、8、10。ABCB1基因C1236T位点基因型在血脂异常和血脂正常人群中分布不同(χ2=8.206,P=0.017)。具有完整7项血脂指标的血脂异常患者各基因型间各项血脂指标差异无统计学意义(P>0.05)。结论 ABCB1基因C1236T多态性在皖南地区汉族血脂异常和血脂正常人群中频率分布不同,但与血脂异常患者各项血脂指标无相关性。
Objective To investigate the frequency distribution of C1236T polymorphism of ATP binding cassette transporter B1 (ABCB1) gene in Han nationality in southern Anhui province and its correlation with various blood lipid parameters. Methods Ninety-seven patients with dyslipidemia and 26 with dyslipidemia were enrolled according to four indexes of serum total cholesterol (TC), triglyceride (TG), low density lipoprotein cholesterol (LDL-C) and high density lipoprotein cholesterol (HDL- In normal subjects, PCR-RFLP was used to detect the gene polymorphism at C1236T locus of ABCB1 gene in all the subjects. Genotyping was performed to compare the frequency distribution of each genotype in patients with dyslipidemia and normal blood lipids. There was no significant difference in serum TC, TG, LDL-C, HDL-C, apolipoprotein, apolipoprotein 177 patients with dyslipidemia who had complete blood fat index of B (apo B), lipoprotein (a) [LP (a)] were selected to compare the differences of various blood lipid indexes among different genotypes. Results The C1236T locus of ABCB1 gene was identified as CC, CT and TT genotypes in the Han population of Southern Anhui Province. The number of three genotypes in the dyslipidemic population was 21, 78 and 98, respectively. The cases of three genotypes in the normal lipid group were 8,8,10. The C1236T loci of ABCB1 gene were distributed differently in patients with dyslipidemia and normal blood lipids (χ2 = 8.206, P = 0.017). There was no significant difference in all the lipid parameters among all genotypes of patients with dyslipidemia with complete blood lipid index (P> 0.05). Conclusions The C1236T polymorphism of ABCB1 gene is different in the Han population with dyslipidemia and normal lipid levels in South Anhui Province, but not with all the lipid parameters in patients with dyslipidemia.