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目的探讨程序性死亡分子1(PD-1)基因的rs11568821、rs2227981和rs10204525位点在新疆维吾尔族结核病患者及健康对照人群中的基因型、等位基因及单体型的分布频率;确定PD-1单核苷酸多态性(SNP)与新疆维吾尔族结核病发病风险的相关性。方法利用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)技术对152例无血缘关系的新疆维吾尔族结核病患者和171例健康维吾尔族对照者的PD-1基因多态性的分布进行了检测。应用SPSS软件计算PD-1基因型和等位基因频率、χ~2值、优势比(OR)和95%可信区间(95%CI);SHEsis软件进行单体型的检测。结果新疆维吾尔族结核病患者与健康对照者PD-1三个位点基因型分布均符合Hardy-Weinberg平衡。虽基因型及等位基因在两组间差异均无统计学意义(P>0.05),但单体型组合C-A-G、C-A-A、T-G-G和C-A与结核病发病风险增加具有显著相关性,而T-A-A和T-A与降低结核病的发病风险有显著相关性。结论 PD-1单体型组合C-A-G、C-A-A、T-G-G和C-A可能增加结核病的发病风险,而T-A-A和T-A降低结核病的发病风险。
Objective To investigate the frequencies of rs11568821, rs2227981 and rs10204525 sites of PD-1 gene in genotypes, alleles and haplotypes of Uygur tuberculosis patients and healthy controls in Xinjiang Uygur nationality. To determine the frequency of PD- 1 SNP and the risk of tuberculosis in Uighur in Xinjiang. Methods Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to examine the polymorphism of PD-1 gene in 152 unrelated patients with Uygur tuberculosis in Xinjiang and 171 healthy Uigur patients Distribution was tested. SPSS software was used to calculate the genotype and allele frequencies of PD-1, χ ~ 2 values, odds ratio (OR) and 95% confidence interval (95% CI); SHEsis software was used to detect haplotype. Results The distribution of genotypes of PD-1 in Uygur tuberculosis patients and healthy controls in Xinjiang was in accordance with Hardy-Weinberg equilibrium. Although the genotype and allele had no significant difference between the two groups (P> 0.05), haplotype combinations CAG, CAA, TGG and CA were significantly associated with the increased risk of tuberculosis, while TAA and TA There is a significant correlation between reducing the risk of developing tuberculosis. Conclusion PD-1 haplotype combination C-A-G, C-A-A, T-G-G and C-A may increase the risk of tuberculosis, while T-A-A and T-A reduce the risk of tuberculosis.