论文部分内容阅读
目的:探讨三磷酸腺苷结合盒转运蛋白A1(ABCA1)基因R219K多态性在新疆汉族和维吾尔族健康人群中的分布特征及与血脂水平的相关性。方法:采用聚合酶链反应-限制性片段长度多态性技术,对新疆640名汉族和468名维吾尔族健康体检者的ABCA1基因R219K多态性进行检测,比较2个民族基因型和等位基因的分布特征,并分析ABCA1基因R219K多态性与血脂水平的相关性。结果:ABCA1基因R219K多态性位点在汉族和维吾尔族KK的基因型频率(20.5%,14.3%)、RK基因型频率(51.1%,51.5%)及RR基因型频率(28.4%,34.2%)比较差异均有统计学意义(P<0.05)。2个民族K等位基因频率(46.0%,40.1%)和R等位基因频率(54.0%,59.9%)比较差异有统计学意义(P<0.05)。2个民族KK、RK基因型携带者较RR基因型携带者血清三酰甘油水平降低(P<0.05),维吾尔族KK基因携带者,汉族KK、RK基因型携带者血清高密度脂蛋白胆固醇水平高于RR基因型携带者,差异均有统计学意义(P<0.05)。结论:ABCA1基因R219K多态性在新疆维吾尔族、汉族之间存在差异,且该多态性与血清高密度脂蛋白与三酰甘油水平有关。
Aims: To investigate the distribution of R219K polymorphism of adenosine triphosphate binding cassette transporter A1 (ABCA1) gene in healthy population of Han and Uygur people in Xinjiang and its correlation with serum lipid levels. Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect R219K polymorphism of ABCA1 gene in 640 Chinese Han and 468 Uigur healthy subjects. The genotypes and alleles of two ethnic groups were compared The distribution characteristics of ABCA1 R219K polymorphism and blood lipid levels were analyzed. Results: The frequencies of RK genotypes (51.1%, 51.5%) and RR genotype frequencies (28.4%, 34.2%) in Han and Uighur KK genotypes were significantly higher in the R219K polymorphism site of ABCA1 gene (20.5%, 14.3% ) Difference was statistically significant (P <0.05). The frequencies of K allele (46.0%, 40.1%) and R allele (54.0%, 59.9%) in 2 ethnic groups were significantly different (P <0.05). Serum triglyceride levels were lower in KK and RK genotypes than those in RR genotypes in 2 ethnic groups (P <0.05). Serum high-density lipoprotein cholesterol levels in Uygur KK carriers, Han KK and RK genotypes Higher than RR genotype carriers, the difference was statistically significant (P <0.05). Conclusion: The R219K polymorphism of ABCA1 gene is different between Uygur and Han nationalities in Xinjiang, and the polymorphism is related to the level of serum high density lipoprotein and triacylglycerol.