重症肌无力患者维生素D受体多态性的初步研究

目的 初步观察重症肌无力(MG)患者的维生素D受体(VDR)基因多态性与MG临床特点之间的关系。方法 采用PCR—RFLP方法检测29例散发性MG和9例家族性MG患者的VDR型基因的多态性，观察其与MG临床特点的关系。结果 未发现VDR基因多态性与散发性MG患者的性别、发病年龄、Osserman分型以及并发症有关，家族性MG患者无aa基因型，且其a等位基因频率低于散发性MG患者和健康对照组，差异均有显著性。结论 尚未发现散发性MG患者的VDR基因多态性与临床特点有关。家族性MG患者的VDR基因多态性与散发性MG患者不同。MG患者的VDR基因多态性仍需进一步研究。

Preliminary Study on Vitamin D Receptor Gene Polymorphism of Myasthenia Gravis Patients

Objective To conduct a preliminary study on vitamin D receptor (VDR) gene polymorphism in myasthenia gravis (MG) patients. Methods VDR gene polymorphism of 29 sporadic MG and 9 familial MG patients were determined with PCR-RFLP methods and compared among different MG subtypes. Results No VDR polymorphism was found associated with sporadic MG subtypes according to gender. age of onset. Osser-man type and complications. No aa genotype was found in familial MG patients, and there was significant lower frequency of a allele in familial MG patients compared to sporadic MG patients and healthy controls. Conclusions No association is found between VDR gene polymorphism and clinical features in sporadic MG patients. There are some difference of VDR gene frequencies between familial MG and sporadic MG patients. VDR gene polymorphism of MG patients still need for further study.