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收集类风湿关节炎(RA)患者和正常对照人群血标本,提取白细胞基因组DNA,以PCR扩增目的基因片段并应用荧光探针杂交可视技术检测MBL基因CGT52TGT、GGC54GAC和GGA57GAA点突变,分析MBL基因点突变与RA及其严重程度的关系。72例RA患者中,检出54位密码点突变杂合子29例和纯合子3例、57位密码点突变杂合子1例,其54、57位密码突变的基因频率分别为0.243和0.007;95例正常对照样本中,检出54位密码点突变杂合子22例和纯合子2例、57位密码点突变杂合子1例,其54、57位密码点突变的基因频率分别为0.137和0.005;两者比较,其54位密码点突变有显著差异(x~2=6.78,P<0.05)。有关节侵蚀破坏的43例RA患者中,检出54位密码点突变杂合子21例和纯合子3例,其基因频率为0.314;29例无关节侵蚀破坏的RA患者中,仅有8例54位密码点突变杂合子,基因频率为0.138;两者比较存在显著差异(x~2=6.45,P<0.05)。因此认为,MBL基因点突变是RA的易感因素并与疾病的严重程度有关。
Blood samples were collected from patients with rheumatoid arthritis (RA) and normal controls and genomic DNA was extracted from leukocytes to amplify the target gene fragments by PCR. The point mutations of CGT52TGT, GGC54GAC and GGA57GAA were detected by fluorescent probe hybridization visualization technique. MBL Relationship between point mutation and RA and its severity. Of the 72 patients with RA, 29 of the 54 codon-point mutation heterozygotes and 3 of the homozygotes were detected, and 57 of them were heterozygous for the codon point mutation. The gene frequencies of 54 and 57 were 0.243 and 0.007 respectively. 95 In the normal control samples, 22 cases of codon point mutation and 2 cases of homozygote were detected, and 57 cases of codon point mutation heterozygote were detected. The frequencies of 54 and 57 codon point mutations were 0.137 and 0.005 respectively. There was a significant difference (P <0.05) in the mutation of 54 codons between the two groups (x ~ 2 = 6.78, P <0.05). Of the 43 patients with RA who had undergone joint erosion, 21 of the 54 codon-point mutation heterozygotes and 3 of the homozygotes were detected, with a gene frequency of 0.314. Of the 29 RA patients without erosion of the joint, only 8 of 54 There was a significant difference (x ~ 2 = 6.45, P <0.05). Therefore, MBL gene point mutation is a susceptible factor of RA and the severity of the disease.