[发明专利]一种用于检测人苯丙酮尿症的探针组合物、检测试剂、检测试剂盒

权利要求书

1.一种用于检测人苯丙酮尿症的探针组合物，其特征在于，所述探针组合物针对的人苯丙酮尿症相关基因靶向序列选自PAH基因上的若干位点、PTS基因上的若干位点、QDPR基因上的若干位点、PCBD1基因上的若干位点、GCH1基因上的若干位点、SPR基因上的若干位点、DNAJC12基因上的若干位点中的至少一种；

所述PAH基因上的位点包括：c.1003AG、c.1007AG、c.1021AT、c.1022AG、c.1028AT、c.1065+3AG、c.1066-2AT、c.1074AT、c.1081AC、c.1103AG、c.1112AG、c.1114AT、c.1130AG、c.1132AT、c.1157AG、c.1169AG、c.1181AC、c.1187AG、c.1194AC、c.1197AT、c.1199+4AG、c.1200-2AG、c.1216AG、c.1218AG、c.1241AG、c.1244AT、c.124AG、c.1250AG、c.1252AC、c.1256AG、c.125AT、c.1315+4AG、c.1316-2AC、c.169-2AG、c.181AG、c.193AG、c.1AT、c.202AG、c.204AT、c.224AG、c.227AC、c.233AT、c.241AC、c.253AT、c.259AC、c.280AG、c.283AT、c.289AC、c.299AG、c.320AG、c.353-2AG、c.380AG、c.386AG、c.428AT、c.434AT、c.441+4AG、c.442-2AC、c.452AG、c.461AG、c.471AC、c.479AC、c.490AG、c.499AT、c.500AG、c.509AG、c.510-2AG、c.520AG、c.533AT、c.545AG、c.548AG、c.59AT、c.602AG、c.611AG、c.614AC、c.617AG、c.619AG、c.620AG、c.659AC、c.662AG、c.664_665delGA、c.667AT、c.668AT、c.684AC、c.686AG、c.704AC、c.712AG、c.791AT、c.796AC、c.800AG、c.803AG、c.805AC、c.808AG、c.810AT、c.812AG、c.826AG、c.830AG、c.832AG、c.839AC、c.842+4AG、c.843-2AT、c.845AG、c.847AG、c.869AG、c.887AG、c.902AC、c.911AG、c.913-2AG、c.913-7AG、c.913-8AG、c.969AG、c.970-2AG、c.970-7AG、c.970AG、c.974AG、c.982AG、[g.102839031TC]、[g.102844333TC]、[g.102846948TC]、[g.102852811TC]、[g.102852818TC]、[g.102852845TC]、[g.102852857TC]、[g.102852945TC]、[g.102855309TC]、[g.102866605TA]、[g.102917130TC]、c.707-7AT、c.820AG、c.796_797delACinsGA、c.187_190delACCCinsCCCA、c.1198delA、c.59_60delAGinsCC、c.707-2delA、c.1169_1171delAGAinsGGG、c.916delA、c.1002CA、c.1006CT、c.1016CT、c.1039CT、c.1042CG、c.1046CA、c.1049CA、c.1063CT、c.1065+7CA、c.1066-14CG、c.1066-3CG、c.1066-7CA、c.1068CG、c.1071CA、c.1076CT、c.1084CT、c.1085CT、c.1096CG、c.1097CA、c.1105CG、c.1115CG、c.1123CG、c.1139CT、c.1146CG、c.1147CT、c.1150CT、c.1161CA、c.117CG、c.1184CA、c.119CT、c.1208CT、c.1219CT、c.121CT、c.1232CG、c.1237CT、c.1242CA、c.1246CA、c.1247CA、c.1253CA、c.1285CA、c.1301CA、c.1330CT、c.1340CA、c.140CT、c.157CT、c.183CG、c.205CT、c.209CT、c.211CT、c.242CA、c.261CA、c.265CT、c.275CT、c.30CG、c.311CA、c.329CT、c.331CT、c.352+7757CG、c.355CT、c.364CT、c.365CA、c.371CT、c.395CT、c.400CT、c.436CT、c.439CT、c.440CT、c.442-14CT、c.442-5CG、c.462CA、c.472CT、c.478CT、c.47CA、c.494CA、c.498CA、c.504CA、c.505CA、c.508CG、c.514CT、c.517CA、c.523CT、c.526CT、c.578CT、c.580delCinsGA、c.587CA、c.58CT、c.598dupA、c.601CT、c.605CT、c.609CG、c.618CA、c.631CA、c.648CG、c.65CA、c.673CA、c.674CT、c.676CT、c.679CG、c.692CT、c699CA、c.703CT、c.721CT、c.724CT、c.727CT、c.730CT、c.731CT、c.745CT、c.749CT、c.753_754delTC、c.776CT、c.781CG、c.789CG、c.795CA、c.799CG、c.804CA、c.811CT、c.818CT、c.823CG、c.824CT、c.833CG、c.836CT、c.841CG、c.842CG、c.853CT、c.859CG、c.868CT、c.874CT、c.875CT、c.884CG、c.889CT、c.899CT、c.901CT、c.910CT、c.922CG、c.926CT、c.929CT、c.930_940delTCTGGGTGCAC、c.938CT、c.961CA、c.965CT、c.968CT、c.975CG、c.983CA、c.997CT、[g.102840433GA]、[g.102840493GA]、[g.102843661GC]、[g.102852815GA]、[g.102852816GA]、[g.102852834GA]、[g.102852858GC]、[g.102852876GA]、[g.102855148GC]、c.1166delC、c.632delC、c.1222delC、c.463delC、c.1099delC、c.1220delC、c.737delC、c.941delC、[g.102852911AGA]、[g.102852911AGAA]、c.1001GC、c.1010GT、c.1012GT、c.1023GC、c.1030GC、c.1031GT、c.1033GT、c.1036GA、c.1037GA、c.1054GC、c.1065+1GA、c.1065+39GT、c.1066-10GA、c.1066-11GA、c.1066-1GC、c.1070GA、c.1078GT、c.1101GA、c.1117GA、c.1162GA、c.1171_1172delAG、c.1180GT、c.1183GC、c.1199+17GA、c.1199+1GC、c.1199+20GC、c.1199+5GA、c.1200-1GC、c.1200-8GA、c.1238GC、c.1243GT、c.1259GT、c.1264GA、c.127GT、c.1315+1GA、c.1315+5GC、c.1318GT、c.1339GC、c.136GC、c.158GA、c.168_168+1delGGinsAA、c.168+5GC、c.168GT、c.169GA、c.175GT、c.196GA、c.212GA、c.223GC、c.226GT、c.228GC、c.232GC、c.250GT、c.301GA、c.307GA、c.308GA、c.352+1GA、c.353-1GA、c.359GA、c.379GA、c.385GT、c.3GA、c.433GA、c.441+1GC、c.441+3GC、c.441+5GA、c.442-1GC、c.442GC、c.443GA、c.451GC、c.466GC、c.470GA、c.473GC、c.48dupT、c.493GC、c.506GA、c.510-1GA、c.511GA、c.512GA、c.516GT、c.527GC、c.529GC、c.532GA、c.544GA、c.547GC、c.552GT、c.560GA、c.561GA、c.591GC、c.604GA、c.60+5GA、c.607dupT、c.60GC、c.613GA、c.615GC、c.650GA、c.653GT、c.678GC、c.682GT、c.688GA、c.707-1GA、c.715GA、c.716GA、c.728GA、c.733GA、c.739GC、c.755GC、c.769GT、c.770GA、c.775GA、c.782GA、c.794GA、c.801GC、c.809GT、c.814GT、c.828GT、c.838GA、c.841_842+1delCCG、c.842+3GC、c.842+5GA、c.843-1GA、c.844GA、c.856GA、c.864GC、c.865GC、c.871GA、c.886GC、c.890GT、c.898GT、c.903GT、c.912+1GC、c.912GA、c.925GA、c.934GC、c.937GA、c.943GT、c.960GC、c.964GA、c.969+1GA、c.969+34GA、c.969+5GA、c.970-1GT、c.977GC、c.990GC、c.994GA、c.995GT、[g.102839156CA]、[g.102840472CT]、[g.102840492CT]、[g.102843645CG]、[g.102844368CT]、[g.102851686CT]、[g.102851709CT]、[g.102852814CT]、[g.102852848CT]、[g.102852902CT]、[g.102852929CT]、[g.102855281CT]、[g.102855313CT]、[g.102855315CA]、[g.102866635CG]、[g.102866641CG]、[g.102866641CT]、[g.102866664CT]、[g.102877457CA]、[g.102912790CT]、[g.102917066CA]、c.470_471delGAinsAC、c.547_548delGAinsTT、c.1024delG、c.1089delG、c.563delG、c.722delG、c.740delG、c.920delG、c.722_735delGCCTCCGACCTGTGinsCCTCCGACCTGTA、c.509+1delG、c.935delG、c.1019TC、c.1027TG、c.1029TA、c.1044_1047dupGTCA、c.1045TG、c.1066-13TG、c.1066TG、c.1069TG、c.110TC、c.1136TC、c.1144TC、c.1156TG、c.1159TG、c.1174TA、c.1175TC、c.1196TC、c.1199+2TC、c.1200-3TG、c.1204TC、c.1205TG、c.1217TC、c.1228TA、c.1229TC、c.122TC、c.1235TG、c.1249TC、c.1262TG、c.1271TA、c.1289TC、c.1315+2TC、c.1315+6TA、c.1331TC、c.134TC、c.143TC、c.161TC、c.164TC、c.165TG、c.168+2TC、c.168+6TG、c.169-13TG、c.185TC、c.194TG、c.195TG、c.199TC、c.229TC、c.231TG、c.266_267insG、c.281TG、c.292TG、c.293TC、c.305TC、c.317TC、c.353-6TA、c.361TC、c.441+2TA、c.441+6TA、c.453TA、c.460TA、c.46TC、c.482TC、c.491TC、c.502TC、c.510-6TG、c.510TA、c.521TA、c.530TC、c.535TC、c.569TG、c.580_581delCT、c.586TA、c.594TG、c.603TG、c.607TA、c.612TC、c.61-3TC、c.616TG、c.635TC、c.638TC、c.649TC、c.656TC、c.671TC、c.672TG、c.680TA、c.689TC、c.690_691insG、c.697TA、c.718TG、c.719TC、c.734TA、c.743TG、c.746TC、c.760TA、c.763TG、c.764TC、c.773TC、c.778TA、c.785TG、c.787TC、c.788TC、c.793TG、c.802TC、c.813TG、c.817TC、c.827TG、c.829TG、c.842+2TA、c.842+6TA、c.843-5TC、c.848TA、c.870TG、c.877TA、c.878TC、c.896TG、c.912+16TA、c.912+2TC、c.913-5TG、c.932TC、c.949TC、c.953TC、c.969+6TC、c.970-5TA、c.970-6TG、c.971TA、c.981TG、c.991TC、c.992TC、c.998TC、[g.102840466AG]、[g.102843644AC]、[g.102852830AT]、[g.102855151AG]、[g.102855230AC]、[g.102855261AG]、[g.102855273AG]、[g.102855307AT]、c.168+19TC、c.1129delT、c.806delT、c.907delT、c.155delT、c.165delT、c.734_735delTGinsCA、c.163_165delTTT、c.1119_1120insT、c.111dupG、c.1177_1178insT、c.1355dupA、c.185_188dupTGAC、c.206dupC、c.30dupC、c.335dupA、c.43_44insAG、c.584dupA、c.667_674dupAACATTCC、c.686dupA、c.839_840insT、[g.102855231insA]、c.1127delA、c.503delA、c.551delA、c.556delA、c.558delA、[g.102843647delT]、c.1087_1088delAA、c.124_126delAAA、c.277_280delAACA、c.131_133delAAG、c.344_347delAAGA、c.1215_1219delAATAC、c.967_969delACA、c.57_60+1delACAGG、c.810_814delACATG、c.241_256delACCCATTTGGATAAAC、c.338_341delAGAA、c.558_559delAT、c.280_283delATCA、c.398_401delATCA、c.1199+88delC、c.1269delC、c.1282delC、c.184delC、c.190delC、c.350delC、c.669delC、c.837delC、[g.102843679delG]、c.1314_1315+4delCAGTAA、c.279_282delCATC、c.47_48delCT、c.931_932delCT、c.509+15_509+18delCTTG、c.1038delG、c.1055delG、c.1057delG、c.1200delG、c.137delG、c.13delG、c.509+5delG、[g.102843756delC]、[g.102844377delC]、c.171_172delGA、c.838_842+3delGAACCGTG、c.232_235delGAAT、c.541_544delGAGG、c.1117_1118delGC、c.60+5_60+6delGC、c.822_832delGCCCATGTATA、c.324_328delGCTTT、c.543_545delGGA、c.1037_1044delGGCTCCTG、c.1056delT、c.1066-12delT、c.1306delT、c.358delT、c.753delT、c.75delT、c.843-4delT、c.976delT、c.1357_*2delTAAAG、c.1196_1199delTAAG、c.284_286delTCA、c.1092_1094delTCT、c.116_118delTCT、c.1092_1106delTCTCCCCCTGGAGCT、c.61-13_61-5delTCTTATCCT、c.441+2_441+3delTG、c.185_189delTGACC、c.1043_1053delTGTCATCCTTT、c.843-13_843-10delTTCT、c.194_201delTTGAATCT、c.895_897delTTT、c.665AT、c.754CT、c.940CT、[g.102852824GA，T]、[g.102852911AGA，AA]、[g.102852919AGA，AT]、c.1172GT、c.1199GC、c.1223GT、c.168+1GT、c.456_463dupTGTGTACC、c.842+1GT、[g.102866641CG，T]、[g.102912786CG，T]、c.1099dupC、c.581TG、[g.102894893AG，T]中的至少一种；

所述PTS基因上的位点包括：c.104AG、c.139AG、c.146AG、c.155AG、c.164-716AT、c.187AG、c.238AG、c.244-2AG、c.271AG、c.272AG、c.274AC、c.281AT、c.296AG、c.326AG、c.338AG、c.340AG、c.347AG、c.385AG、c.393AC、c.402AC、c.407AT、c.412AC、c.84-291AG、c.84-323AT、c.86AC、c.108CG、c.200CA、c.226CT、c.259CT、c.25CT、c.260CT、c.277CA、c.293CA、c.297CA、c.302CT、c.317CT、c.342CG、c.351CA、c.35CG、c.379CT、c.37CT、c.46CT、c.65CG、c.73CT、c.84-3CG、[g.112226516CG]、[g.112230639CT]、c.100GA、c.163+1GA、c.166GA、c.186+1GA、c.243GA、c.26GA、c.286GA、c.289GA、c.331GA、c.345GA、c.370GT、c.373GA、c.3GA、c.400GA、c.430GC、c.68GC、c.74GA、c.78GT、c.120TA、c.147TG、c.163+2TC、c.164-7TA、c.209TA、c.216TA、c.239TC、c.276TA、c.298TG、c.308TC、c.382TA、c.53TC、c.58TC、c.45_46insGGC、c.82dupA、c.393delA、c.169_171delGTG、c.361_374delGTTCTTCCTGTAGG、c.118_121delTTTG中的至少一种；

所述QDPR基因上的位点包括：c.115AC、c.197AG、c.436+2552AG、c.449AG、c.647_655dupTCACAGGGA、[g.17512054TA]、c.341CT、c.344CA、c.353CT、c.434CT、c.472CT、c.515CT、c.661CT、c.710CT、[g.17512007GC]、c.190GA、c.199-1GT、c.265GA、c.266GA、c.270GA、c.295+1GA、c.311GA、c.323GA、c.388GA、c.436+1GC、c.437-1GA、c.445GA、c.451GC、c.466GA、c.488GA、c.49GC、c.508GA、c.50GT、c.53GA、c.545+1GA、c.59GT、c.673GA、c.68GA、[g.17511976CT]、c.523_524delGCinsAG、c.105_105+3delGGTAinsAC、c.106TC、c.221TC、c.257TA、c.322TG、c.41TC、c.44TC、c.470TG、c.554TC、c.614TG、c.635TG、c.643TC、c.105_105+1insCG、c.366_368dupTAC、c.609dupA、c.218delA、c.649delA、c.291delC、c.630-3delC、c.547delG中的至少一种；

所述PCBD1基因上的位点包括：c.236CT、c.292CT、c.172GA、c.259GT、c.263GA、c.289GA、c.79GT、c.244TC、c.313TC、c.46delC、c.213_215delCAA中的至少一种；

所述GCH1基因上的位点包括：c.1AT、c.224AC、c.308AC、c.342AT、c.344_2AG、c.3_4dupGG、c.401AG、c.409AG、c.431AC、c.454_2AG、c.458AG、c.482AC、c.509+3AG、c.510_2AG、c.524AG、c.532AG、c.534AT、c.539AG、c.542_2AC、c.625AC、c.626+4AG、c.629AG、c.631AG、c.637AG、c.659AG、c.670AT、c.671AG、c.260delA、c.142CT、c.206CT、c.218CA、c.221CT、c.225CA、c.227CA、c.230CG、c.242CA、c.262CG、c.265CT、c.271CG、c.281CA、c.284CT、c.293CT、c.312CA、c.317CT、c.328CG、c.341CG、c.440CA、c.538CT、c.544CG、c.550CT、c.557CA、c.562CT、c.587CA、c.592CT、c.595CG、c.596CT、c.623CA、c.630CG、c.646CT、c.669CA、c.68CT、c.703CT、c.721CT、[g.54902383GT]、[g.54902390GT]、[g.54902685GA]、[g.54902702GA]、c.175delC、c.166GT、c.170GA、c.181GT、c.193GT、c.239GA、c.248GC、c.250GT、c.263GT、c.269GT、c.287GA、c.288GA、c.295GC、c.322GA、c.323GA、c.343+5GC、c.343GA、c.344_1GA、c.358GT、c.3GA、c.400GA、c.435GT、c.453+1GT、c.453+6GT、c.463GA、c.509+1GT、c.509+5GA、c.510GT、c.527GC、c.541+1GC、c.541GA、c.547GA、c.551GA、c.571GA、c.586GT、c.593GA、c.601GA、c.602GA、c.604GA、c.607GA、c.608GA、c.610GA、c.626+1GC、c.626+5GA、c.633GA、c.650GT、c.690GA、c.722GA、c.747GC、[g.54902341CT]、[g.54902505CT]、c.22_23delGCinsTA、c.62_63delGGinsAACC、c.309delG、c.695delG、c.236TC、c.241TC、c.245TC、c.272TG、c.2TC、c.305TG、c.343+2TG、c.344_5TG、c.350TG、c.404TC、c.410TG、c.421TC、c.423TG、c.455TA、c.461TG、c.488TG、c.554TG、c.578TA、c.611TG、c.614TG、c.617TC、c.627_6TG、c.638TC、c.662TC、c.677TC、c.701TC、c.751TC、[g.54845780AT]、c.212delT、c.197_200dupTGAA、c.313_315dupTTC、c.329dupA、c.403_411dupATAGACATG、c.547dupG、c.626+2dupT、c.627_2dupA、c.653dupT、c.726_727insTTCCC、c.353delA、c.745delA、c.509+3_509+6delAAGT、c.626+3_626+6delAAGT、c.532_534delAGA、c.320_329delAGGGCTACCA、c.267_284delAGGGCTGCTCAAGACGCC、c.612_617delAGTGGT、c.631_632delAT、c.149delC、c.276delC、c.477delC、c.628delC、c.235_240delCTGAGC、c.159delG、c.568delG、c.706delG、[g.54845784delC]、c.657_664delGAAAATGA、c.141_142delGC、c.261_266delGCGGCA、c.233delT、c.597delT、c.536_538delTAC、c.229_246delTCCATCCTGAGCTCGCTG、c.618_626+6delTGAAGCAACGTAAGT、c._251__234delTGACGCGAGGCGGGGCCG、c.513_525delTGTAGAAATCTAT中的至少一种；

所述SPR基因上的位点包括：c.1AG、c.368AG、c.448AG、c.587AG、c.596_2AG、c.688AT、c.751AT、[g.72887223AC]、c.207CG、c.355CT、c.381CG、c.407CT、c.488CT、c.527CT、c.655CT、c.106GA、c.304GT、c.530GC、[g.72887420GA]、c.370TC、c.413TA、c.354_355delTCinsCT、c.448_452delAGAAC中的至少一种；

所述DNAJC12基因上的位点包括：c.158_2AT、c.187AT、c.79_2AG、c.215GC中的至少一种。