原发性干燥综合征与人类组织相容性抗原—DRβ基因

原发性干燥综合征（ＰＳＳ）的病因未明，其中可能涉及遗传因素。用序列特异性引物聚合酶链反应（ＰＣＲ－ＳＳＰ）法对７０例ＰＳＳ患者和１３６名正常人进行人类组织相容性抗原（ＨＬＡ）－ＤＲβ基因分型。发现ＰＳＳ患者群体的ＨＬＡ－ＤＲ３、ＤＲ５２及ＤＲ２的基因频率明显高于正常对照组，而ＨＬＡ－ＤＲ５及ＤＲ９的基因频率则相反，提示ＰＳＳ的发病与ＤＲ３、ＤＲ５２及ＤＲ２呈正相关；而和ＤＲ９、ＤＲ５呈负相关。２个ＰＳＳ患者家族的姐妹与患者具有相同的遗传因素，且和ＰＳＳ患者群体测定的正相关基因相一致。ＰＳＳ患者的主要自身抗体（抗ＳＳＡ抗体及抗ＳＳＢ抗体）与ＨＬＡ－ＤＲ５２之间有明显的相关性，因而表明ＰＳＳ的发病和遗传因素有关。

Study on the relationship between primary Sj?gren syndrome and HLA-DRbeta gene]

The pathogenesis of primary Sj?gren syndrome (PSS) is unclear yet. In order to investigate the role of genetic factor playing in the mechanism of this disorder, we studied the HLA-DR beta gene distributed in 70 patients with PSS and 136 normal subjects by using PCR-SSP technique. The results showed that the gene frequences of HLA-DR3, DR52 and DR2 in patients with PSS were significantly higher than that in normal controls. However, the gene frequencies of HLA-DR5 and DR9 in PSS patients were lower than that in the control group. There were the same genetic phenomena in the siblings of two PSS patients' families. We also found the relationship between HLA-DR52 and the anti-antibodies of SSA or SSB. Our results concluded that the genetic factor is involved in the pathogenesis of primary Sj?gren syndrome.