多巴胺D5受体基因多态性与痉挛性斜颈相关

目的：初步研究痉挛性斜颈与DRD5基因多态性的关联性,进而从分子生物学角度探求其发病机制,为临床诊治提供遗传学依据.方法：选取25名痉挛性斜颈患者和25名健康对照者进行病例对照研究.实验数据采用卡方检验及logistic回归进行统计分析.结果：DRD5基因的ORF上有6个单核苷酸位点的突变,差异均有统计学意义,其中2个可能为危险因素,4个保护性因素.结论：DRD5基因多态性与痉挛性斜颈的易感性有关.

Study of the relationship between the dopamine D5 receptor gene polymorphism and cervical dystonia

Objective： To make a preliminary study of the correlation of the dopamine D5 receptor （DRD5） gene polymorphism with cervical dystonia in order to investigate the pathogenesis from the perspective of molecular biology, and provide ment. Methods： A case-controlled study was the genetic basis for the clinical diagnosis and treatconducted, which included 25 patients with cervical dystonia and 25 normal controls. The Chi-square test and logistic regression analysis were used for statistical analysis of the experimental results. Results： There are six SNP mutations in ORF of DRD5, which was of statistically significance. And they might be related to the spasmodic torticollis, of which, two might be the risk factors and four the protective factors. Conclusion： The polymorphism and the mutation of DRD5 gene may be related to the susceptibility of the spasmodic torticollis.