糖皮质激素受体基因多态性与重症肌无力的关系  被引量:6

Association of glucocorticoid receptor gene polymorphism with myasthenia gravis

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作  者:王莉莉[1] 谢琰臣[2] 侯世芳[1] 冯凯[1] 殷剑[1] 许贤豪[1] 李尊波 王英鹏[3] 熊葶 刘建军[3] 沈定国[3] 

机构地区:[1]卫生部北京医院神经内科,100730 [2]首都医科大学附属友谊医院神经内科 [3]西安高新医院神经内科

出  处:《中华医学杂志》2009年第43期3035-3037,共3页National Medical Journal of China

基  金:国家自然科学基金面上项目(30571707)

摘  要:目的探讨糖皮质激素受体(GR)Bcl I、ER22/23EK基因多态性与重症肌无力(MG)的关系。方法应用PCR产物直接测序方法检测MG患者组(MGG)61例和性别、年龄相匹配的健康对照组(HCG)57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0+A突变,Bcl I 3种基因型GG、CG、CC频率在MGG依次为3.3%、34.4%和62.3%;HCG依次为3.5%、38.6%和57.9%,两组间差异无统计学意义(P=0.887)。G和C的等位基因频率在MGG分别为20.5%、79.5%;HCG为22.8%和77.2%,两组间差异无统计学意义(P=0.968)。两组的基因型多态性分布均符合Hardy-Weinberg定律(P〉0.05)。ER22/23EK基因型在MGG和HGG组均为GG,未发现变异。结论GR基因Bcl I、ER22/23EK多态性与MG发病均无明确相关性。Objective To investigate the association of two glucocorticoid receptor (GR) polymorphisms ( Bcl I , ER22/23EK) with Myasthenia Gravis (MG). Methods The genotypes of GR in 61 MG patients (MGG) and 57 age and gender -matched healthy controls (HCG) were determined by polymerase chain reaction and nucleotide sequence determination. Results The frequencies of three genotypes (GG,CG,CC) in Bcl I were 3.3% ,34.4% ,62. 3% in MGG and 3.5% ,38.6% ,57.9% in HCG respectively. The difference in the distribution of genotypes between MGG and HCG was statistically insignificant (P =0. 887). The frequencies of G and C allele were 20. 5% vs 79. 5 %in MGG, and 22. 8% vs 77. 2% in HCG. The difference in the distribution of alleles between MGG and HCG was statistically insignificant ( P = 0. 968 ). The genotype frequencies in two groups were both in Hardy-Weinberg equilibrium (P 〉 0. 05) . The genotypes of ER22/23EK in MGG and HCG were all GG and no mutation was detected. Conclusion Bcl I and ER22/23EK polymorphisms of GR have no definite relationship with the risk nf MG.

关 键 词:重症肌无力 糖皮质激素受体 基因多态性 单核苷酸 

分 类 号:R686[医药卫生—骨科学]

 

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