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目的分析浙南地区强直性脊柱炎(ankylosing spondylitis,AS)患者杀伤细胞免疫球蛋白样受体(killer cell immunoglobulin-like receptors,KIRs)基因多态性,并分析其在AS形成中的作用。方法采用序列特异性引物聚合酶链反应(PCRSSP)的方法检测浙南地区无血缘关系的99名AS患者的KIR基因型和单倍体型,并与100例浙南地区健康对照的KIR基因分布特点进行比较。结果所有AS患者均存在2DL1、2DL3、2DL4、3DL2、3DL3基因及假基因2DP1和3DP1。共有28种基因型,其中AA1型比例最高(35.35%),BX2其次(13.13%)。AS患者活化性基因KIR2DS3的表型频率明显高于健康人群(P<0.01)。AS患者抑制性基因型(AA型)频率明显低于健康人群(P<0.05),但两组之间单倍体型比例差异无统计学意义(P=0.256)。结论活化型基因KIR2DS3在AS患者中的表型频率明显升高,且AS患者活化型和抑制性KIR基因比例出现免疫活化的倾向,可能与AS的发生有一定的关系。
Objective To analyze the polymorphisms of killer cell immunoglobulin-like receptors (KIRs) in patients with ankylosing spondylitis (AS) and analyze their roles in the development of AS. Methods KIR genotypes and haplotypes of 99 unrelated AS patients in South Zhejiang were detected by PCR-SP method. The distribution of KIR gene in 100 southern Zhejiang Province healthy controls Compare. Results All AS patients had 2DL1, 2DL3, 2DL4, 3DL2 and 3DL3 genes and pseudogenes 2DP1 and 3DP1. A total of 28 genotypes, of which AA1 type the highest proportion (35.35%), followed by BX2 (13.13%). The phenotype frequency of active gene KIR2DS3 in AS patients was significantly higher than that in healthy people (P <0.01). The frequency of suppressor genotype (AA) in patients with AS was significantly lower than that in healthy people (P <0.05), but there was no significant difference in haplotypes between the two groups (P = 0.256). CONCLUSION: The phenotype of KIR2DS3, an active gene, is significantly increased in patients with AS, and the activation of KIR genes in patients with AS tends to be activated. It may be related to the occurrence of AS.