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申请/专利权人：江苏源隆医疗科技有限公司

摘要：本发明涉及遗传病基因检测领域，具体涉及一种用于检测黏多糖贮积症VII型的探针组合物，所述探针组合物针对的黏多糖贮积症VII型相关基因靶向序列选自GUSB基因上的若干位点。本发明解决现有技术中常规的黏多糖贮积症VII型诊断方法无法进行GUSB基因突变孕前携带者筛查和产前诊断的问题。上述试剂盒可以对所有GUSB基因突变位点一次性检测，可弥补现有诊断方法对MPSVII检测中时效性差的不足，还能用于孕前携带者筛查和产前诊断，提高出生人口质量。

主权项：1.一种用于检测黏多糖贮积症VII型的探针组合物，其特征在于，所述探针组合物针对的黏多糖贮积症VII型相关基因靶向序列选自GUSB基因上的若干位点；所述位点为c.1084GA、c.1876TC、c.1520GA、c.1618GA、c.328CT、c.1820GC、c.112TG、c.448GA、c.1818GC、c.88CT、c.1337GA、c.1120CT、c.406GA、c.935CA、c.1304GC、c.1145GA、c.728TC、c.155CT、c.398GC、c.1586AG、c.307CT、c.1391+618_1391+619delTC、c.530CT、c.295GA、c.266AG、c.1653+151AG、c.1715GA、c.1523AG、c.1135AG、c.1016AG、c.455AG、c.148GT、c.1477-70CT、c.1091CT、c.581+1GA、c.1775delT、c.1693CG、c.867GA、c.1874_1875delGA、c.1457_1460delACTA、c.959AGC、c.959AG、c.959AC、c.-12GA、c.454GA、c.646CT、c.1831CT、c.1144CT、c.1617CT、c.526CT、c.1061CT、c.1429CT、c.1244CT、c.1856CT、c.1051CT、c.1244+1GA、c.1222CT、c.1521GA、c.1069CT、c.1484AG、c.1881GT、c.442CT、c.1730GT和c.1050GC；所述c.1084GA对应的探针的核苷酸序列如SEQIDNo.1；所述c.1876TC对应的探针的核苷酸序列如SEQIDNo.2；所述c.1520GA对应的探针的核苷酸序列如SEQIDNo.3；所述c.1618GA对应的探针的核苷酸序列如SEQIDNo.4；所述c.328CT对应的探针的核苷酸序列如SEQIDNo.5；所述c.1820GC对应的探针的核苷酸序列如SEQIDNo.6；所述c.112TG对应的探针的核苷酸序列如SEQIDNo.7；所述c.448GA对应的探针的核苷酸序列如SEQIDNo.8；所述c.1818GC对应的探针的核苷酸序列如SEQIDNo.9；所述c.88CT对应的探针的核苷酸序列如SEQIDNo.10；所述c.1337GA对应的探针的核苷酸序列如SEQIDNo.11；所述c.1120CT对应的探针的核苷酸序列如SEQIDNo.12；所述c.406GA对应的探针的核苷酸序列如SEQIDNo.13；所述c.935CA对应的探针的核苷酸序列如SEQIDNo.14；所述c.1304GC对应的探针的核苷酸序列如SEQIDNo.15；所述c.1145GA对应的探针的核苷酸序列如SEQIDNo.16；所述c.728TC对应的探针的核苷酸序列如SEQIDNo.17；所述c.155CT对应的探针的核苷酸序列如SEQIDNo.18；所述c.398GC对应的探针的核苷酸序列如SEQIDNo.19；所述c.1586AG对应的探针的核苷酸序列如SEQIDNo.20；所述c.307CT对应的探针的核苷酸序列如SEQIDNo.21；所述c.1391+618_1391+619delTC对应的探针的核苷酸序列如SEQIDNo.22；所述c.530CT对应的探针的核苷酸序列如SEQIDNo.23；所述c.295GA对应的探针的核苷酸序列如SEQIDNo.24；所述c.266AG对应的探针的核苷酸序列如SEQIDNo.25；所述c.1653+151AG对应的探针的核苷酸序列如SEQIDNo.26；所述c.1715GA对应的探针的核苷酸序列如SEQIDNo.27；所述c.1523AG对应的探针的核苷酸序列如SEQIDNo.28；所述c.1135AG对应的探针的核苷酸序列如SEQIDNo.29；所述c.1016AG对应的探针的核苷酸序列如SEQIDNo.30；所述c.455AG对应的探针的核苷酸序列如SEQIDNo.31；所述c.148GT对应的探针的核苷酸序列如SEQIDNo.32；所述c.1477-70CT对应的探针的核苷酸序列如SEQIDNo.33；所述c.1091CT对应的探针的核苷酸序列如SEQIDNo.34；所述c.581+1GA对应的探针的核苷酸序列如SEQIDNo.35；所述c.1775delT对应的探针的核苷酸序列如SEQIDNo.36；所述c.1693CG对应的探针的核苷酸序列如SEQIDNo.37；所述c.867GA对应的探针的核苷酸序列如SEQIDNo.38；所述c.1874_1875delGA对应的探针的核苷酸序列如SEQIDNo.39；所述c.1457_1460delACTA对应的探针的核苷酸序列如SEQIDNo.40；所述c.959AGC对应的探针的核苷酸序列如SEQIDNo.41；所述c.959AG对应的探针的核苷酸序列如SEQIDNo.42；所述c.959AC对应的探针的核苷酸序列如SEQIDNo.43；所述c.-12GA对应的探针的核苷酸序列如SEQIDNo.44；所述c.454GA对应的探针的核苷酸序列如SEQIDNo.45；所述c.646CT对应的探针的核苷酸序列如SEQIDNo.46；所述c.1831CT对应的探针的核苷酸序列如SEQIDNo.47；所述c.1144CT对应的探针的核苷酸序列如SEQIDNo.48；所述c.1617CT对应的探针的核苷酸序列如SEQIDNo.49；所述c.526CT对应的探针的核苷酸序列如SEQIDNo.50；所述c.1061CT对应的探针的核苷酸序列如SEQIDNo.51；所述c.1429CT对应的探针的核苷酸序列如SEQIDNo.52；所述c.1244CT对应的探针的核苷酸序列如SEQIDNo.53；所述c.1856CT对应的探针的核苷酸序列如SEQIDNo.54；所述c.1051CT对应的探针的核苷酸序列如SEQIDNo.55；所述c.1244+1GA对应的探针的核苷酸序列如SEQIDNo.56；所述c.1222CT对应的探针的核苷酸序列如SEQIDNo.57；所述c.1521GA对应的探针的核苷酸序列如SEQIDNo.58；所述c.1069CT对应的探针的核苷酸序列如SEQIDNo.59；所述c.1484AG对应的探针的核苷酸序列如SEQIDNo.60；所述c.1881GT对应的探针的核苷酸序列如SEQIDNo.61；所述c.442CT对应的探针的核苷酸序列如SEQIDNo.62；所述c.1730GT对应的探针的核苷酸序列如SEQIDNo.63；所述c.1050GC对应的探针的核苷酸序列如SEQIDNo.64；所述探针组合物由以上探针组成。

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百度查询： 江苏源隆医疗科技有限公司 一种用于检测黏多糖贮积症VII型的探针组合物、试剂、试剂盒、检测方法