中国人(汉族)MG患者FcγRⅢB基因多态性分析

Analysis of FcγRⅢB Gene Polymorphisms in Chinese (Han Race) Myasthenia Gravis

目的探讨FcγRⅢB基因多态性在中国(汉族)重症肌无力(myastheniagravis,MG)患者中的分布特征与其免疫治疗疗效的关系。方法选取70例MG患者和40例中青年卒中患者的全血,提取DNA后运用基因序列特异性PCR扩增技术(PCRSSP)测定FcγRⅢB基因多态性的表达,比较基因型和等位基因在不同临床特点亚组以及不同疗效亚组的分布。结果MG患者基因型及等位基因分布频率与对照组间差异无显著性(P>005)。I型MG患者NA1纯合子的分布频率较高(P=00617)。MG患者激素治疗有效组基因型和激素治疗无效组比较差异有显著性(P<001),MG患者激素治疗有效组基因型和对照组间差异也有显著性(P<001),MG患者激素治疗有效组的NA1纯合子分布频率高于对照组。结论MG患者NA1纯合子与激素疗效较好相关,且该基因型在轻型MG患者中表达高可能是其疗效较好的原因,亦可能是MG的一个保护性因子。

Objective To discribe the characterestics of FcγRⅢB gene polymorphisms in Chinese (Han Race)myasthenia gravis (MG) patients and to explore the relationship between the polymorphisms and the effect of immune therapy of MG. Methods We collected the blood of 70 MG patients and 40 young stroke patients. DNA was extracted and sequence specific primer-PCR (PCR-SSP) methods were used to discribe FcγRⅢB gene polymorphisms. The frequencies of genotype and alleles were compared among different subclasses in respect to its clinical characters and the therapeutic effects. Results There was no significant difference of the distribution frequencies of the FcγRⅢB genotype and allele between MG patients and control group. There were significant difference in the frequency of NA1/NA1 homozygous genotype between MG patients with good steroid therapeutic effect as compared significantly with control group without good effect. And the frequency of NA1/NA1 ~homozygous in Osserman type I patients was higher, although there was no significant difference. Conclusions NA1/NA1 homozygous genotype in MG patients correlates with the better steroid effects.Its frequency is also higher in light MG patients, which may explain the better effect in steroid group. This genotype may be a protective factor in MG.