摘要
目的探讨糖皮质激素受体(GR)BclⅠ和ER22/23EK基因多态性与多发性硬化(multiple sclerosis,MS)发病的相关性。方法应用聚合酶链反应(PCR)产物直接测序方法检测MS患者(42例)和性别、年龄相匹配的健康对照组(88例)的GR基因多态性分布特征。结果 BclⅠ存在C→G突变、ER22/23EK存在G→A突变,BclⅠ3种基因型GG、CG、CC频率在MS组依次为2.4%、33.3%和64.3%,健康对照组分别为4.5%、34.1%和61.4%,两组间比较无统计学差异(P=0.810)。G和C的等位基因频率在MS组分别为19%和81%,健康对照组为21.6%和78.4%,两组间比较无统计学差异(P=0.648)。两组的基因型多态性分布均符合Hardy-Weinberg定律(P>0.05)。两组ER22/23EK基因型均为GG,未发现变异。结论 GR基因BclⅠ和ER22/23EK多态性与MS发病可能无相关性。
Objective To investigate the association of Bcl I and ER22/23EK polymorphism in glucocorticoid receptor （GR） with the pathogenesis of multiple sclerosis （MS）. Methods The three genotypes of GR in MS group （MSG, 42 cases） and age and gender-matched healthy control group （HCG, 88 cases） were determined by polymerase chain reaction and nucleotide sequence determination. Results There were C→ G mutation in Bcl I and G→A mutation in ER22/23EK. The frequencies of three genotypes GG, CG, CC in Bcl I were 2.4%, 33.3%, 64.3% in the MSG and 4.5%, 34. 1%, 61.4% in the HCG respectively. The difference in distribution of the three genotypes between MSG and HCG was insignificant （P= 0. 810）. The frequencies of G and C allele were 19% and 81% in the MSG, and 21.6% and 78. 4% in HCG, respectively. The difference in distribution of the alleles between MSG and HCG was insignificant （P= 0. 648）. The genotype frequencies in two groups were both in Hardy-Weinberg equilibrium （P〉0. 05）. The genotypes of ER22/23EK in MSG and HCG were all GG and no mutation was detected. Conclusions Bcl I and ER22/23EK polymorphisms of GR may have no relationshio with the risk of MS.
出处
《中国神经免疫学和神经病学杂志》
CAS
2011年第1期24-26,共3页
Chinese Journal of Neuroimmunology and Neurology
基金
北京市自然科学基金资助项目(7072070)
