| 浙南地区强直性脊柱炎患者KIR基因多态性分析 |
| 投稿时间：2014-08-11 修订日期：2014-09-05 点此下载全文 |
| 引用本文：徐慧英,朱哲慧,唐丽丽,朱晶晶,潘晓东,陈必成,张纯武,林向阳.浙南地区强直性脊柱炎患者KIR基因多态性分析[J].医学研究杂志,2015,44(3):80-84 |
| DOI：
10.3969/j.issn.1673-548X.2015.03.023 |
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| 基金项目:浙江省科技厅局基金资助项目(2013C33173);浙江省卫生厅基金资助项目(11-ZC24);浙江省教育厅重中之重外科学项目:温州市科技局基金资助项目(Y20100188,H2005B032) |
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| 中文摘要: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(PCR-SSP)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。 |
| 中文关键词:强直性脊柱炎 杀伤细胞免疫球蛋白样受体 基因型 单倍型 |
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| Analysis of the Polymorphisms of Killer Cell Immunoglobulin-like Receptors in Ankylosing Spondylitis in Zhejiang South Area |
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| Abstract:Objective To investigate the polymorphisims of killer cell immunoglobulin-like receptors (KIRs) in the ankylosing spondylitis (AS) patients in the South of Zhejiang Province, and analyze the role of KIR in the pathogenesis of AS. Methods KIR genotype and haplotype of 99 AS individuals in Zhejiang south area were detected using Polymerase chain reaction with sequence-specific primers (PCR-SSP) method, and the frequencies of them were compared with the healthy control. Results We found that 2DL1, 2DL3, 2DL4, 3DL2, 3DL3 genes and the pseudogene 2DP1and 3DP1 were administered to all AS patients. Twenty-eight genotypes were detected in these patients, with the frequency of AA1 genotype being the highest (35.35%), followed by BX2 (13.13%). The frequencies of activating gene 2DS3 in AS were higher than that of healthy control (39.39% vs 21.00%, χ2=7.992, P<0.01). (3)The frequencies of inhibitory genotype (AA genotype) in AS patients were lower than that of healthy control (35.35% vs 48.00%, P<0.05), but there was no difference of KIR haplotype between the two groups (P=0.256). Conclusion The data demonstrate that the increased frequency of activating gene KIR2DS3 in AS patients and the imbalance of inhibitory and activating KIR genes may have an association with the genetic predisposition to AS. |
| keywords:Ankylosing spondylitis Killer cell immunoglobulin-like receptors (KIRs) Genotype Haplotype |
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