摘要
为研究幼年类风湿关节炎（ＪＲＡ）的遗传学发病特点及与疾病的相关性，应用聚合酶链反应技术（ＰＣＲ）序列特异性引物和序列特异性寡核苷酸斑点杂交法，检测５０例类风湿关节炎患儿。结果：ＪＲＡ全身型３５．０％的患儿具有ＨＬＡ－ＤＲ８基因，与对照组相比，差异有非常显著意义（Ｐ＜０．０１）。多关节型中的类风湿因子（ＲＦ）阳性组８３．３％的患儿携带ＤＲ２，而ＲＦ阴性组中只有２２．２％的患儿携带ＤＲ２，二者差异有非常显著意义（Ｐ＜０．００１）；ＤＲ１、ＤＲ１０试验组有增高的趋势。少关节型的ＨＬＡ－ＤＲ呈多态性分布，９１．７％的患儿为ＨＬＡ－Ｂ２７位点阳性且全部为男性。结论：ＨＬＡ－ＤＲ８或ＤＲ４是导致ＪＲＡ全身型的易感因素，ＨＬＡ－ＤＲ２与ＲＦ高度联锁是导致多关节型发生的因素，少关节型中未发现与之相关的ＤＲ基因，但与Ｂ２７位点相关。提示患儿的检测结果可能是强直性脊柱炎的早期表现。
To study the correlation between disease phenotypes and HLA DR alleles in juvenile rheumatoid arthritis (JRA), the authors tested HLA DR 8 allele frequency in 50 JRA patients (systemic 17, polyarticular 15 and pauciarticular 18) and 92 normal controls by polymerase chain reaction (PCR) sequence specific oligonucleotide (SSO) methods (PCR/SSO). The frequency of HLA DR 8 in systemic JRA (35.3%) was much higher than that in control group with statistically significan difference ( P < 0.01). In polyarticular group DR 2 was more prominant in rheumatoid factor (RF) positive group (83.3%), whereas only 22.2% in RF negative group. There was an increasing tendency in the frequencies of HLA DR 1 and DR 10 in this group. A polymorphous character of HLA DR variance was observed in pauciarticular patients and HLA B 27 positivity was found in 91.7% of these patients who were all boys. These findings suggested that HLA DR 8 and DR 4 were susceptible genes in systemic JRA. The association of DR 2 with RF was considered to be a causative factor for polyarticular JRA. The pauciarticular patients with positive HLA B 27 might be in the early stage of juvenile ankylosing spondylitis.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
1997年第4期183-185,共3页
Chinese Journal of Pediatrics
基金
北京市自然科学基金
