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系统性红斑狼疮多发家系与HLA致病单倍型研究 |
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彭学标 徐文严
【摘 要】 目的 探讨系统性红斑狼疮(SLE)的发病机制和分子遗传基础。方法 用聚合酶链反应结合顺序特异的寡核苷酸(PCR/SSO)探针杂交方法对5个SLE多发家系和 80例无亲缘关系的SLE患者HLA-DR、DQ亚区作DNA分型。结果 发现S LE中HLA-DRB11501，DQA10102等位基因频率及HLA-DRB11501，DQA10102，DQB1 0602单倍型频率均显著升高，提示该单倍型可能为SLE的致病单倍型。5个家系中，健康同胞 7例，其中3例与患病同胞有一条或两条单倍型相同，经过近3年的追踪观察，发现1例已患病 ；另4例无相同单倍型者均未患病。结论 对SLE多发家系检测HLA单 倍型有助于对具有致病单倍型的健康同胞的临床监测、预防和优生咨询等。
【关键词】 单倍型 红斑狼疮，系统性 家系
Association between families with multiple cases of systemic lupus eryth ematosus and HLA pathogenic haplotypes
PENG Xuebiao,XU Wenyan.NanFang Hospital,First Militrary Medical University,Guangzhou 510515
【Abstract】 Objective To study the pathogenes is and the basis of molecular genetics of SLE.Methods HLA-DR a nd DQ subregions were typed in 80 SLE patients without relationship and 5 famili es with mutiple cases of SLE using polymerase chain reaction and sequence specif ic oligonucleotide (PCR/SSO) probe hybridization.Results The fr equencies of DRB11501 and DQA10102 alleles and HLA-DRB11501，DQA10102 a nd DQB10602 haplotype were both signficantly increased in patients,compared w ith controls.It suggested that the haplotype might be pathogenic to SLE.There were 7 healthy cases in 5 SLE families and 3 of the 7 healthy cases had the sam e one or two haplotypes as suffering siblings.After follow-up about three years ,it was found that 1 of the 3 cases has been ill,but none of other 4 cases witho ut the same haplotypes as suffering siblings has been suffered from SLE.Conclusion For those families with mutiple cases of SLE,it is helpful to detect HLA haplotypes for clinical surviellance,prevention and eugenic consu ltation of those healthy siblings with the pathogenic haplotype.
【Key words】 Haplotypes Lupus erythematosus,systemic Ge nealogy
系统性红斑狼疮(SLE)是一种涉及免疫、遗传，并可能受环境因素影响的自身免疫性疾病， 且与HLA多种等位基因关联［1］。我们通过检测SLE家系HLA单倍型，并对具有致病单 倍型的健康同胞作追踪观察，现将结果报告如下。
1 资料与方法
1.1 研究对象
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