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目的拟通过体外直接测序方法发现B7-H3基因存在的单核苷酸多态性(SNP)位点,探讨其与类风湿性关节炎(RA)易感性之间的关联。方法先采用直接测序法分析86例RA患者及73例健康人B7-H3基因序列,发现SNP位点;再结合序列特异性引物聚合酶链反应(SSP-PCR)检测377例RA患者及321例健康对照组共计6个位点的SNP。结果在汉族人群中发现B7-H3基因编码区及部分内含子中存在6个SNP位点,分别位于基因的第19 589[chr.73 992 036、19 630(chr.73 992 077)、19 948(chr.73 992 394)、19 956(chr.73 992 602)、20 214(chr.73 992 660)、28 969(chr.73 993 889)]位。其中前5个位点的基因型频数和等位基因频数在RA组及健康组中的分布存在显著性差异(P<0.05)。结论发现汉族人群B7-H3基因6个位点存在单核苷酸多态性变异,其中5个位点与汉族人群的RA发生相关。
Objective To detect the single nucleotide polymorphism (SNP) site of B7-H3 gene by direct sequencing in vitro and explore its association with susceptibility to rheumatoid arthritis (RA). Methods The sequence of B7-H3 gene in 86 patients with RA and 73 healthy controls was analyzed by direct sequencing and SNP was detected. A total of 377 patients with RA and 321 patients with RA were analyzed by SSP-PCR. A total of 6 SNPs in healthy control group. Results There were 6 SNP sites in the coding region of B7-H3 gene and some introns in Han population, which were located at 19589 [chr.73992 036, 19 630 (chr.73992 077), 19 948 (chr.73 992 394), 19 956 (chr.73 992 602), 20 214 (chr.73 992 660), 28 969 (chr.73 993 889)]. The distribution of genotype frequency and allele frequency in the first 5 loci in RA group and healthy group was significantly different (P <0.05). CONCLUSION: Single nucleotide polymorphisms (SNPs) exist in 6 loci of B7-H3 gene in Han population, of which 5 loci correlate with the occurrence of RA in Han population.