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幼年特发性关节炎患儿HLA-DRB1基因多态性分析
HLA-DRB1 allelic polymorphism in children with juvenile idiopathic arthritis
目的：研究广东地区汉族幼年特发性关节炎（JIA）患儿HLA-DRB1位点等位基因多态性分布特点。方法：采用序列特异性引物-聚合酶链反应(SSP-PCR)技术对94例JIA患儿和226例健康儿童HLA-DRB1的13个等位基因进行分析，并分析上述基因在各组中的分布。结果：JIA患儿HLA-DRB1*08(P=0.0014，OR=2.26)的分布频率明显高于健康儿童，HLA-DRB1*12（P=0.032，OR=0.55）的分布频率明显低于健康儿童。在JIA全身型及多关节型中HLA-DRB1*08明显增高，而HLA-DRB1*15在JIA全身型及少关节型中明显降低，观察组与对照组比较P<0.05，差异有统计学意义，其他各位点差异无统计学意义。结论： HLA-DRB1*08可能是JIA小儿的易感基因。HLA-DRB1*12可能是JIA小儿的保护基因,其中HLA-DRB1*08是全身型及多关节型的易感基因，而HLA-DRB1*15与全身型及少关节型保护基因密切相关。［中国当代儿科杂志，2010，12（5）：333-337］
OBJECTIVE: To investigate the predisposing alleles of HLA-DRB1 genes in Han children with juvenile idiopathic arthritis (JIA) from Guangdong Province, China. METHODS: Polymerase chain reaction-specific sequence primers (PCR-SSP) method was used to type HLA-DRB1 subregions in 94 Han children with JIA and 226 Han healthy controls. RESULTS: The frequency of HLA-DRB1*08 allele in the JIA group was significantly higher than that in the control group (P=0.0014, OR=2.26), in contrast, the frequency of HLA-DRB1*12 allele was significantly lower than that in the control group (P=0.032, OR=0.55). It was found that in children with So-JIA subset (P=0.023, OR=2.25) and polyarthritis JIA subset (P=0.034, OR=2.81), the allele HLA-DRB1*08 was expressed most commonly. The allele HLA-DRB1*15 was expressed in a lower frequency in children with So-JIA subset (P=0.049, OR=0.413) and oligoarthritis subset (P=0.045, OR=0.16) compared with that in the control group. CONCLUSIONS: HLA-DRB1*08 may be the susceptible allele of JIA, while HLA-DRB1*12 may be the protective allele of JIA in Han children from Guangdong Province. HLA-DRB1*08 is the susceptible allele of So-JIA and polyarthrits. HLA-DRB1*15 is the protective allele for systemic JIA and oligoarthritis.［Chin J Contemp Pediatr, 2010, 12 (5):333-337］
幼年特发性关节炎 / HLA-DRB1 / PCR-SSP / 儿童
Juvenile idiopathic arthritis / HLA-DRB1 / PCR-SSP / Isoform / Child
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