脑卒中多基因遗传风险评分及发病风险评估装置及其应用.pdf

(19)中华人民共和国国家知识产权局(12)发明专利申请(10)申请公布号CN113046429A(43)申请公布日2021.06.29(21)申请号202110215682.8G16H50/30(2018.01)(22)申请日2021.02.26(71)申请人中国医学科学院阜外医院地址100037北京市西城区北礼士路167号(72)发明人鲁向锋顾东风黄建凤李宏帆牛晓歌(74)专利代理机构北京三友知识产权代理有限公司11127代理人张德斌韩蕾(51)Int.Cl.C12Q1/6883(2018.01)C12N15/11(2006.01)G16B20/20(2019.01)G16B20/40(2019.01)G16B25/20(2019.01)权利要求书4页说明书24页附图8页(54)发明名称脑卒中多基因遗传风险评分及发病风险评估装置及其应用(57)摘要本发明提供了一种脑卒中多基因遗传风险评分(Polygenicriskscore，PRS)及发病风险评估装置及其应用，具体而言，本发明提供了检测个体信息的试剂在制备评估脑卒中发病风险的检测装置中的应用，其中，所述个体信息包括280个Stroke相关单核苷酸多态性位点。所述个体信息优选还包括CAD、SBP、WC、T2D、TC、PP、AF相关单核苷酸多态性位点中的一种或多种。本发明进一步整合多基因遗传风险评分和传统危险因素，能够实现脑卒中发病风险的再分层，对于脑卒中一级预防有重要意义。CN113046429ACN113046429A权利要求书1/4页1.检测个体信息的试剂在制备评估脑卒中发病风险的检测装置中的应用，其中，所述个体信息包括以下单核苷酸多态性位点信息：Stroke相关单核苷酸多态性位点：rs10051787、rs10093110、rs10139550、rs10160804、rs10237377、rs10260816、rs10267593、rs10278336、rs1037814、rs10507248、rs10512861、rs10745332、rs10757274、rs10773003、rs10824026、rs10857147、rs10953541、rs10968576、rs11099493、rs1116357、rs11206510、rs11222084、rs11257655、rs11509880、rs1152591、rs11557092、rs11601507、rs11604680、rs11624704、rs11677932、rs1173766、rs117601636、rs117711462、rs11787792、rs11810571、rs11838776、rs11869286、rs12027135、rs12037987、rs12202017、rs12229654、rs12415501、rs12438008、rs12445022、rs12500824、rs1250229、rs12549902、rs12571751、rs12581963、rs12692735、rs12718465、rs12801636、rs12897、rs12927205、rs12932445、rs12936587、rs12946454、rs13143308、rs13209747、rs1321309、rs13216675、rs13233731、rs13342232、rs1334576、rs13359291、rs1344653、rs1359790、rs1367117、rs13723、rs1412444、rs1436953、rs1470579、rs1495741、rs1508798、rs151193009、rs1552224、rs1591805、rs16844401、rs16849225、rs16858082、rs16896398、rs16967013、rs16999793、rs17030613、rs17080091、rs17087335、rs17122278、rs17135399、rs17301514、rs173396、rs17358402、rs17477177、rs17514846、rs17581137、rs17612742、rs17680741、rs17791513、rs180327、rs181359、rs1861411、rs1868673、rs1870634、rs1887320、rs1892094、rs1902859、rs191835914、rs1976041、rs1982963、rs2000813、rs2028299、rs2057291、rs2068888、rs2074158、rs2075291、rs2075423、rs2107595、rs2128739、rs2145598、rs216172、rs22