MBL基因单核苷酸多态性分布与类风湿性关节炎易感性相关性的研究

Study on the Correlation Between MBL Gene Single Nucleotide Polymorphism and Rheumatoid Arthritis

[目的]分析MBL基因启动子区-221G/C、-550G/C SNP位点在宁夏地区的分布特征,并探讨其与类风湿性关节炎(RA)发病的相关性。[方法]采用聚合酶链式反应-限制性片段长度多态性分型法(PCR-RFLP)和聚合酶链式反应-序列特异性引物(PCR-SSP)技术,对400名宁夏健康个体及380名RA患者MBL-221G/C、MBL-550G/C进行基因分型。[结果](1)RA患者中:MBL-221G/C、MBL-550G/C的基因型频率和等位基因频率分布在不同年龄、不同性别组间的比较中均不存在统计学差异(P>0.05)。(2)在RA患者与健康对照组间的比较中,MBL-550G/C基因型频率和等位基因频率分布均存在统计学差异(P<0.05)。[结论](1)RA的发病在MBL-221和MBL-550多态位点不受年龄、性别、的影响。(2)MBL-550位的C等位基因可能是宁夏地区RA发生的危险因子。

[Objective]To determine the distribution of Mannose-Binding Lectin(MBL)gene polymorphism in Ningxia,To study on the influence of MBL genepolymorphism in RA.[Methods]By using PCR-RFLP and SSP-PCR,we determined MBL genotype and haplotype of MBL-221G/C、MBL-550G/C in 400 healthy people which from Ningxia district,380 RA patients of Ningxia district.[Results](1)At MBL-221G/C and MBL-550G/C,There were no statistically significant differences of nation、sex and age in either the frequency of genotypeor that of allele in MBL genepolymorphism of RA patients(P>0.05).(2)At MBL-550G/C,there were statistically significant differences in MBL genepolymorphism genetictype frequencies between RA patients and healthy(P<0.05).[Conclusion](1)The onset of RA is not affected by age,gender and ethnicity.(2)At MBL-550G/C,C allele probably is one of the risk factors which may lead to RA disease in Ningxia district.