摘要:目的:研究通过对生长板钠尿肽受体3(natriureticpeptide receptor 3,NPR3)、XI型胶原α2(collagen,typeXI,alpha-2,COL11A2)基因相关位点的单核苷酸多态性(single nucleotidepolymorphism,SNP)的研究,以明确其与ISS的相关性。方法:采用氯仿苯酚抽提法抽提病例组外周血基因组DNA,采用直接抽提法抽提对照组基因组DNA,使用核酸蛋白测定仪对DNA浓度进行测定。抽提的185例病例组DNA和474例对照组DNA,在Illumina Goldengate基因平台上对NPR3基因和COL11A2基因上的20个位点进行tSNP分型,测定等位基因和基因型分布频率。结果:COL11A2基因位点rs9368758, rs970901, rs9277934与ISS相关;COL11A2基因位点rs2855440, rs2855437, rs1799908与ISS相关; COL11A2基因位点rs12526336与ISS相关;COL11A2基因位点rs2257126, rs986522, rs2855430, rs2071025与ISS无相关性;NPR3基因位点rs6889608, rs696831, rs16890208, rs1173747与ISS无相关性。结论:COL11A2基因位点rs9368758, rs970901. rs9277934. rs2855440.rs2855437, rs1799908, rs12526336及NPR3基因位点rs973079的SNP与ISS的发病存在相关性,ISS是一个多基因、异质性疾病。COL11A2基因位点rs2257126.rs986522 , rs2855430 , rs2071025及NPR3基因位点rs6889608. rs696831.rs16890208. rs1173747的SNP与ISS的发病无关。