中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2009年
43期
3035-3037
,共3页
王莉莉%谢琰臣%侯世芳%冯凯%殷剑%许贤豪%李尊波%王英鹏%熊葶%刘建军%沈定国
王莉莉%謝琰臣%侯世芳%馮凱%慇劍%許賢豪%李尊波%王英鵬%熊葶%劉建軍%瀋定國
왕리리%사염신%후세방%풍개%은검%허현호%리존파%왕영붕%웅정%류건군%침정국
重症肌无力%糖皮质激素受体%基因多态性%单核苷酸
重癥肌無力%糖皮質激素受體%基因多態性%單覈苷痠
중증기무력%당피질격소수체%기인다태성%단핵감산
Myasthenia Gravis%Glucccorticoid receptor%Polymorphism%Single nucleotide
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 Bcl I存在C-G突变、ER22/23EK存在G→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HaMy-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.
目的 探討糖皮質激素受體(GR)Bcl I、ER22/23EK基因多態性與重癥肌無力(MG)的關繫.方法 應用PCR產物直接測序方法檢測MG患者組(MGG)61例和性彆、年齡相匹配的健康對照組(HCG)57例的GR基因多態性分佈特徵.結果 Bcl I存在C-G突變、ER22/23EK存在G→A突變,Bcl I 3種基因型GG、CG、CC頻率在MGG依次為3.3%、34.4%和62.3%;HCG依次為3.5%、38.6%和57.9%,兩組間差異無統計學意義(P=0.887).G和C的等位基因頻率在MGG分彆為20.5%、79.5%;HCG為22.8%和77.2%,兩組間差異無統計學意義(P=0.968).兩組的基因型多態性分佈均符閤HaMy-Weinberg定律(P>0.05).ER22/23EK基因型在MGG和HGG組均為GG,未髮現變異.結論 GR基因Bcl I、ER22/23EK多態性與MG髮病均無明確相關性.
목적 탐토당피질격소수체(GR)Bcl I、ER22/23EK기인다태성여중증기무력(MG)적관계.방법 응용PCR산물직접측서방법검측MG환자조(MGG)61례화성별、년령상필배적건강대조조(HCG)57례적GR기인다태성분포특정.결과 Bcl I존재C-G돌변、ER22/23EK존재G→A돌변,Bcl I 3충기인형GG、CG、CC빈솔재MGG의차위3.3%、34.4%화62.3%;HCG의차위3.5%、38.6%화57.9%,량조간차이무통계학의의(P=0.887).G화C적등위기인빈솔재MGG분별위20.5%、79.5%;HCG위22.8%화77.2%,량조간차이무통계학의의(P=0.968).량조적기인형다태성분포균부합HaMy-Weinberg정률(P>0.05).ER22/23EK기인형재MGG화HGG조균위GG,미발현변이.결론 GR기인Bcl I、ER22/23EK다태성여MG발병균무명학상관성.
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 of MG.
