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目的 探讨中国汉族系统性红斑狼疮 (SLE)患者和正常人群RANTES单核苷酸多态性(SNP)及其受体CCR5多态性。方法 收集 14 6例确诊的SLE患者和 15 9名正常对照。通过PCR RFLP方法检测研究对象RANTES启动区SNP及其受体CCR5△ 32突变频率。结果 病例组RANTES 4 0 3位点G G、G A、A A基因型频率分别为 76 .71%、2 1.92 %、1.37% ;对照组分别为 6 7.30 %、2 9.5 6 %和3.14 % ,两组间基因型分布差异无显著性 (P >0 .0 5 )。两组突变等位基因 4 0 3A频率分别为 12 .3%、17.9% (P >0 .0 5 )。病例组RANTES 2 8位点C C、C G、G G基因型频率分别为 93.15 %、6 .85 %、0 ;对照组分别为 86 .79%、12 .5 8%和 0 .6 3% (P >0 .0 5 )。两组突变等位基因 2 8G频率分别为 3.4 %、6 .9% (P>0 .0 5 )。病例组和对照组突变等位基因CCR5△ 32频率分别为 0、0 .3% (P >0 .0 5 )。中国汉族人群RANTES突变基因型 4 0 3A A低于北美黑人和西非黑人 (P <0 .0 5 ) ,与北美高加索、北美西班牙人和北美亚洲人一致。RANTES 2 8位点基因型分布与北美亚洲人一致 ,但与北美高加索、北美西班牙人、北美黑人和西非黑人相差较大 (P <0 .0 5 )。结论 本次研究发现RANTES 4 0 3位点和 2 8位点单核苷酸多态性与SLE发病没有直接的关系。CCR5△ 32
Objective To investigate the polymorphisms of RANTES and its receptor CCR5 in Chinese Han patients with systemic lupus erythematosus (SLE) and normal controls. Methods A total of 146 cases of SLE patients and 159 normal controls were collected. The frequencies of SNP and its receptor CCR5Δ32 mutation in RANTES promoter region were detected by PCR RFLP. Results The frequencies of GG, GA and AA genotypes at RANTES 403 locus were 76.71%, 2.192% and 1.37% respectively in the case group and 6 7.30%, 9.56% and 3.14% in the control group respectively. There was no significant difference in genotype distribution (P> 0.05). The frequencies of 4 0 3A alleles in the two groups were 12.3% and 17.9%, respectively (P> 0.05). The frequencies of CC, CG and GG genotypes in the RANTES 28 locus were 93.15% and 6 .85%, respectively in the case group and 86.79%, 12.58 and 6.36% in the control group (P> 0 .0 5). The frequencies of 2 8G alleles in the two groups were 3.4% and 6.9%, respectively (P> 0.05). The frequencies of CCR5 △ 32 alleles in case group and control group were 0,0. 3% (P> 0.05) respectively. The RANTES mutation genotype of Chinese Han population was lower than that of North American blacks and West African blacks (P <0.05), and was consistent with North American Caucasians, North American Spaniards and North American Asians. RANTES 2 8 locus genotype distribution is consistent with that of North American Asians, but differs significantly from North American Caucasians, North American Hispanics, North American blacks and West African blacks (P <0.05). Conclusion This study found that RANTES 403 and 28 site SNPs have no direct relationship with the pathogenesis of SLE. CCR5 △ 32