摘要
目的:研究新疆维吾尔族ATP结合盒G8(ABCG8)基因和尼曼-匹克C1样1蛋白(NPC1L1)基因单核苷酸多态性与胆囊结石病的关系。方法:采集43例新疆维吾尔族胆囊结石病人和96例无胆结石对照病人的外周静脉血,提取基因组DNA。用实时定量PCR的等位基因分型法确定ABCG8基因T400K、Y54C、D19H和NPC1L1基因-762 T>C、1679 C>G的基因型。结果:在所有病人中,NPC1L1基因1679 G在胆石组与对照组中的分布无统计学差异(32.6%比26.6%,P=0.306);但在女性胆石组中,1679 G频率明显高于对照组(36.7%比19.4%,P<0.05)。NPC1L1基因-762 T>C位点以及ABCG8基因3个位点在两组间的分布无差异。结论:携带NPC1L1基因1679 G等位基因可能与新疆维吾尔族女性胆石病发病存在相关性。
Objective To investigate the relation of single nucleotide polymorphism of the ATP binding cassette （ABC） G8 and the Niemann-Pick Cl-like 1 （NPC1L1） gene with gallstone disease in Xinjiang Uygur population. Methods Forty-three patients with gallstone disease and 96 patients without gallstone as controls were studied. The T40OK, Y54C and D19H of ABCG8 gene and the -762 T〉C and 1679 C〉G of NPC1L1 gene were genotyped by real-time PCR based on allelic discrimination method. Results In the overall patients, no difference was found for the distribution of 1679 G allele between the gallstone patients and the controls （32.6% vs 26.6%, P=0.306）. However, the frequency of 1679 G was significantly higher in female gallstone patients than in the female gallstone-free controls （36.7% vs 19.4%, P〈0.05）. No difference was found for the distribution of alleles of the other polymorphisms studied between the gallstone patients and the gallstone-free controls. Conclusions Our study showed that the 1679 G allele of NPCIL1 gene may be related with gallstone disease in the female Uygur population.
出处
《外科理论与实践》
2014年第1期30-34,共5页
Journal of Surgery Concepts & Practice
基金
国家自然科学基金(81070367
81270537)
新疆维吾尔自治区科技厅自然科学基金(2011211A042)
