论文部分内容阅读
原发性高尿酸血症及痛风属于多基因遗传病，其发病及临床特征具有明显的遗传特异性：不同地域、不同种族、不同性别的人群遗传易患性显著不同，与遗传易患性密切相关的基因单核苷酸多态性位点也存在着明显的差异。约90％的原发性高尿酸血症和痛风与尿酸排泄减少相关，尿酸排泄减少与多基因遗传有关。现已通过全基因组扫描和候选基因的方法发现多个易患基因与尿酸代谢水平及原发性痛风相关，为痛风疾病的诊断、预测及治疗提供依据。“,”Primary hyperuricemia and gout are polygenic disease .The incidence and clinical features have obvious genetic specificity:genetic susceptibility and SNP loci related to genetic susceptibility are signif-icantly different among different regions,different races,and different genders.About 90%of primary hyperu-ricemia and gout relates to decreased uric acid excretion associated with polygenic inheritance .Now multiple susceptibility genes have been found associated with uric acid metabolism and primary gout through genome-wide scan and candidate gene approach,which may provide a basis for the etiological diagnosis,prediction and intervention.