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为研究探讨新疆喀什地区的维吾尔族肺结核患者及健康对照人群SLC11A1基因多态性与肺结核易感性的相关性。选取维吾尔族总样本人数644人,其中肺结核患者251人,健康对照者393人,提取个体DNA样本,并采用测序的分型方法(SBT),对SLC11A1基因的3个单核苷酸多态位点(rs17235409 G>A;rs17235416 TGTG/TGTG>--/--;rs3731865 C>G)进行检测,统计分析检测的结果,研究SLC11A1基因的多态性与维吾尔族人群肺结核易感性的相关性;比较SNPs在维吾尔族样本人群与已报道的汉族样本人群及哈萨克族样本人群之间基因频率的差异。结果显示:(1)维吾尔族样本病例组中SLC11A1基因rs17235409 GG、GA、AA基因型频率分别为84.9%、13.9%、AA 1.2%;健康对照组中分别为87.3%,12.2%,0.5%,logistic回归检测,各基因型P>0.05,无明显统计学差异。病例组中SLC11A1基因rs17235416 TGTG/TGTG、TGTG/-、--/--基因型频率分别为85.5%,13.1%,1.6%;健康对照组中分别为87.0%,12.5%,0.5%,logistic回归检测,各基因型P>0.05无明显统计学差异。病例组中SLC11A1基因rs3731865 CC、CG、GG基因型频率分别是2%、21.9%、76.1%;健康对照组中分别是2.3%、24.9%、72.8%,logistic回归检测,各基因型P>0.05无明显统计学差异。(2)SLC11A1基因rs17235409在本实验维族样本人群与已报道的汉族样本人群中GG、GA、AA基因型频率分别是86.6%、12.9%、0.8%和77.7%、20.4%、1.9%,X2=9.363,P<0.05差异有统计学意义。SLC11A1基因rs17235416在本实验维族样本人群已报道的哈萨克族样本人群中TGTG/TGTG、TGTG/-、--/--基因型频率分别为86.3%、12.7%、0.9%和71.9%、24.5%、3.5%,X2=35.833,P<0.05差异有统计学意义。由此可知:(1)本实验维吾尔族人群SLC11A1基因多态性与肺结核易感性不存在相关性。(2)SLC11A1基因多态位点rs17235409rs17235416基因型频率分布在维吾尔族与汉族之间及维吾尔族与哈萨克族之间存在明显差异。
To investigate the relationship between SLC11A1 gene polymorphism and susceptibility to tuberculosis in Uighur tuberculosis patients and healthy controls in Kashgar region of Xinjiang. A total of 644 Uygur nationals were selected, including 251 pulmonary tuberculosis patients and 393 healthy controls. Individual DNA samples were extracted and sequenced by sequencing (SBT). Three single nucleotide polymorphisms (Rs17235409G> A; rs17235416TGTG / TGTG> - / -; rs3731865C> G) were detected, the results of statistical analysis were analyzed to study the association between SLC11A1 polymorphism and susceptibility to tuberculosis in Uygur population. The frequency of SNPs was compared between the Uygur sample population and the reported Han sample population and Kazakh population. The results showed that: (1) The frequency of genotypes of rs17235409 GG, GA and AA in SLC11A1 cases were 84.9%, 13.9% and 1.2% respectively in Uygur samples, and 87.3%, 12.2% and 0.5% in healthy controls, Logistic regression test, the genotype P> 0.05, no significant statistical difference. The frequency of rs17235416 TGTG / TGTG and TGTG / -, - / - genotype of SLC11A1 gene in case group was 85.5%, 13.1% and 1.6%, respectively. The percentage of healthy controls was 87.0%, 12.5% and 0.5% Detection, the genotype P> 0.05 no significant difference. The frequencies of genotypes CC, CG and GG of rs3731865 of SLC11A1 gene were 2%, 21.9% and 76.1% in case group and 2.3%, 24.9% and 72.8% in healthy control group respectively No significant statistical difference. (2) The frequencies of GG, GA, AA genotypes of SLC11A1 rs17235409 in the Uygur sample and reported Han sample population were 86.6%, 12.9%, 0.8% and 77.7%, 20.4% and 1.9%, respectively. 9.363, P <0.05 difference was statistically significant. The frequencies of TGTG / TGTG, TGTG / -, - / - genotypes of the SLC11A1 gene rs17235416 in Kazakh population of Uighur population were 86.3%, 12.7%, 0.9% and 71.9%, 24.5% 3.5%, X2 = 35.833, P <0.05 difference was statistically significant. From this we can see: (1) There is no correlation between SLC11A1 gene polymorphism and susceptibility to tuberculosis in Uygur population. (2) The frequency distribution of rs17235409 rs17235416 polymorphism in SLC11A1 gene was significantly different between Uygur and Han nationality and between Uighur and Kazak ethnicity.