[发明专利]组合物及其在序列测定和变异检测中的用途

摘要

本发明提供了一包含探针的组合物、该组合物的用途、CNV变异检测方法以及同时进行多种变异检测的方法以及用以执行各方法全部或部分步骤的装置。所提供的组合物包含探针，探针固定在固相载体上或者游离于溶液中，所说的探针至少能够覆盖以下15个基因中的5个基因的每个基因区域的至少一部分：HBA1、HBA2、HBB、GJB2、SLC26A4、SMN1、DMD、GALT、PAH、F8、F9、ATP7B、CYP21A2、GAA和PKHD1。该组合物能够用于这15个基因的全部或部分序列的测定，以及基于获得的测定序列进行变异分析，分析变异利于检测或者辅助检测12种我国高发遗传病。

主权项

1.一组合物，其包含探针，所述探针固定在固相载体上或者游离于溶液中，其特征在于，所述探针至少能够覆盖以下15个基因中的每个基因区域的至少一部分：HBA1、HBA2、HBB、GJB2、SLC26A4、SMN1、DMD、GALT、PAH、F8、F9、ATP7B、CYP21A2、GAA和PKHD1；所述探针能够覆盖的区域包括：chr16:59501‑60501，chr16:84266‑84414，chr16:84536‑84781，chr16:84831‑85101，chr16:93451‑94030，chr16:97141‑97648，chr16:101131‑101752，chr16:103124‑104124，chr16:131785‑131980，chr16:163436‑163820，chr16:172301‑173301，chr16:188799‑189799，chr16:193176‑194176，chr16:195937‑196208，chr16:197099‑201899，chr16:201949‑203073，chr16:203090‑203162，chr16:203170‑203270，chr16:203799‑206016，chr16:206540‑207072，chr16:207565‑209099，chr16:209110‑209857，chr16:209909‑210084，chr16:210715‑210790，chr16:210835‑211713，chr16:211845‑211910，chr16:212174‑221360，chr16:221499‑224753，chr16:225065‑233910，chr16:234200‑236401，chr16:237220‑237735，chr16:237800‑239636，chr16:242780‑243149，chr16:254625‑255199，chr16:258005‑258928，chr16:303840‑304852，chr16:313300‑314300，chr13:52506776‑52508891，chr13:52508892‑52509195，chr13:52509699‑52509861，chr13:52511382‑52511559，chr13:52511582‑52511845，chr13:52513157‑52513359，chr13:52515187‑52515390，chr13:52516492‑52516720，chr13:52518215‑52518457，chr13:52520390‑52520644，chr13:52523768‑52523962，chr13:52524113‑52524327，chr13:52524378‑52524565，chr13:52531622‑52531773，chr13:52532417‑52532710，chr13:52534156‑52534157，chr13:52534254‑52534488，chr13:52535943‑52536079，chr13:52538978‑52539199，chr13:52542550‑52542773，chr13:52544598‑52544915，chr13:52548041‑52549334，chr13:52585393‑52585473，chr13:52585474‑52585660，chr11:47599‑48599，chr11:67836‑68836，chr11:95661‑96661，chr11:102658‑103658，chr11:5133611‑5135542，chr11:5151625‑5154197，chr11:5161020‑5162526，chr11:5165060‑5166060，chr11:5167335‑5168901，chr11:5169775‑5171446，chr11:5173950‑5174950，chr11:5179167‑5180167，chr11:5180196‑5181196，chr11:5187425‑5187801，chr11:5190647‑5194526，chr11:5194530‑5197746，chr11:5198220‑5200664，chr11:5207460‑5209762，chr11:5215188‑5216188，chr11:5217440‑5218440，chr11:5218705‑5219705，chr11:5220930‑5223803，chr11:5223825‑5224976，chr11:5227490‑5229196，chr11:5230655‑5232014，chr11:5233456‑5234456，chr11:5235175‑5236175，chr11:5236680‑5238663，chr11:5239076‑5240500，chr11:5240607‑5241607，chr11:5243655‑5249785，chr11:5249788‑5251275，chr11:5252088‑5253088，chr11:5253894‑5256137，chr11:5256268‑5257393，chr11:5257616‑5260578，chr11:5261109‑5262109，chr11:5263479‑5264479，chr11:5264956‑5266333，chr11:5266863‑5268837，chr11:5269306‑5272017，chr11:5272027‑5273936，chr11:5274421‑5276011，chr11:5276020‑5276313，chr11:5277190‑5281370，chr11:5289580‑5292060，chr11:5296973‑5297773，chr11:5300302‑5301302，chr11:5301646‑5302822，chr11:5305045‑5309165，chr11:5316550‑5319380，chr11:5331720‑5334343，chr11:5340085‑5341085，chr11:5342735‑5347056，chr11:5349993‑5350993，chr11:5354065‑5357231，chr13:20766920‑20766921，chr6:31947356‑31948352，chr6:31973287‑31974926，chr6:31975247‑31975249，chr6:31975263‑31976013，chr6:31976102‑31976233，chr6:31976572‑31976708，chr6:31978697‑31978852，chr6:31979037‑31979174，chr6:31980912‑31981045，chr6:31981442‑31981762，chr6:31983786‑31987153，chr6:31988701‑31990021，chr6:31995360‑31995913，chr6:31996044‑31996977，chr6:31996987‑31997123，chr6:31997174‑31997873，chr6:32001038‑32002048，chr6:32002642‑32003451，chr6:32003664‑32005516，chr6:32005832‑32010535，chr6:32010692‑32018023，chr6:32022262‑32023655，chr6:32036417‑32037465，chr6:32040732‑32041800，chrX:31137275‑31140117，chrX:31144689‑31144860，chrX:31152149‑31152381，chrX:31164338‑31164601，chrX:31165322‑31165705，chrX:31187490‑31187788，chrX:31190395‑31190600，chrX:31191586‑31191791，chrX:31195979‑31196157，chrX:31196716‑31196992，chrX:31198417‑31198668，chrX:31200785‑31201091，chrX:31222008‑31222305，chrX:31224629‑31224854，chrX:31226399‑31226400，chrX:31227545‑31227886，chrX:31241094‑31241308，chrX:31279002‑31279203，chrX:31341645‑31341845，chrX:31366603‑31366821，chrX:31382270‑31382271，chrX:31462528‑31462814，chrX:31496153‑31496561，chrX:31497030‑31497290，chrX:31514835‑31515131，chrX:31525328‑31525640，chrX:31645720‑31646049，chrX:31676037‑31676331，chrX:31697422‑31697773，chrX:31747678‑31747935，chrX:31792007‑31792379，chrX:31838022‑31838270，chrX:31854765‑31855009，chrX:31893238‑31893560，chrX:31947643‑31947932，chrX:31950127‑31950414，chrX:31986386‑31986701，chrX:32234963‑32235250，chrX:32305576‑32305888，chrX:32328129‑32328463，chrX:32360147‑32360469，chrX:32361181‑32361473，chrX:32363990‑32364267，chrX:32366453‑32366715，chrX:32380835‑32381145，chrX:32382629‑32382897，chrX:32383067‑32383386，chrX:32398557‑32398867，chrX:32404357‑32404652，chrX:32407548‑32407861，chrX:32408118‑32408368，chrX:32429799‑32430100，chrX:32456288‑32456577，chrX:32459227‑32459501，chrX:32466503‑32466825，chrX:32472709‑32473019，chrX:32479315‑32479316，chrX:32481486‑32481781，chrX:32482633‑32482886，chrX:32486545‑32486897，chrX:32490211‑32490496，chrX:32502966‑32503286，chrX:32509324‑32509705，chrX:32519802‑32520029，chrX:32536055‑32536318，chrX:32563206‑32563521，chrX:32583749‑32584068，chrX:32591577‑32592033，chrX:32613804‑32614063，chrX:32632350‑32632640，chrX:32654052‑32654053，chrX:32662179‑32662500，chrX:32663011‑32663339，chrX:32715917‑32716185，chrX:32717159‑32717480，chrX:32827540‑32827798，chrX:32834515‑32834827，chrX:32841342‑32841574，chrX:32862830‑32863047，chrX:32867775‑32868007，chrX:33038186‑33038387，chrX:33229329‑33229743，chrX:154063994‑154066097，chrX:154088637‑154088953，chrX:154089923‑154090211，chrX:154091288‑154091572，chrX:154108920‑154118775，chrX:154124282‑154124577，chrX:154128071‑154128296，chrX:154129576‑154129787，chrX:154130256‑154130512，chrX:154132111‑154132433，chrX:154132501‑154132869，chrX:154133016‑154133368，chrX:154134625‑154134918，chrX:154156776‑154160021，chrX:154175903‑154176252，chrX:154182097‑154182387，chrX:154185162‑154185516，chrX:154189280‑154189513，chrX:154194175‑154194486，chrX:154194631‑154195032，chrX:154197536‑154197897，chrX:154212892‑154213148，chrX:154215442‑154215650，chrX:154221141‑154221493，chrX:154225178‑154225440，chrX:154227684‑154227945，chrX:154234213‑154235593，chrX:154250615‑154251068，chrX:154375887‑154377267，chrX:154605985‑154615881，chrX:154684139‑154694039，chrX:138612825‑138613081，chrX:138619099‑138619402，chrX:138619451‑138619615，chrX:138623165‑138623418，chrX:138630452‑138630720，chrX:138633151‑138633493，chrX:138642830‑138643084，chrX:138643613‑138645687，chr17:78075325‑78075719，chr17:78078303‑78078304，chr17:78078324‑78078385，chr17:78078386‑78078961，chr17:78079518‑78079723，chr17:78081326‑78081551，chr17:78081569‑78081725，chr17:78082059‑78082238，chr17:78082258‑78082436，chr17:78082466‑78082657，chr17:78083714‑78083884，chr17:78084496‑78084669，chr17:78084710‑78084854，chr17:78085752‑78085929，chr17:78086347‑78086540，chr17:78086645‑78086856，chr17:78086987‑78087195，chr17:78090737‑78090938，chr17:78091369‑78091578，chr17:78091962‑78092186，chr17:78092422‑78092634，chr17:78093041‑78093130，chr17:78093131‑78093709，chr9:34646605‑34646701，chr9:34646702‑34646813，chr9:34647056‑34647285，chr9:34647459‑34647594，chr9:34647624‑34647732，chr9:34647799‑34647988，chr9:34648081‑34648198，chr9:34648301‑34648483，chr9:34648729‑34648921，chr9:34648965‑34649108，chr9:34649377‑34649591，chr9:34649616‑34649617，chr9:34650336‑34650446，chr9:34650447‑34650603，chr13:20761574‑20763039，chr13:20763040‑20763720，chr13:20763721‑20763772，chr13:20766892‑20767144，chr12:103232074‑103232952，chr12:103232953‑103233026，chr12:103234148‑103234323，chr12:103237394‑103237587，chr12:103238016‑103238017，chr12:103238074‑103238075，chr12:103238084‑103238239，chr12:103240643‑103240759，chr12:103245435‑103245564，chr12:103246563‑103246758，chr12:103248884‑103249140，chr12:103260344‑103260471，chr12:103271210‑103271358，chr12:103288483‑103288726，chr12:103306539‑103306706，chr12:103310819‑103310908，chr12:103310909‑103311411，chr6:51480115‑51483878，chr6:51483879‑51484348，chr6:51491765‑51491944，chr6:51497314‑51497316，chr6:51497333‑51497551，chr6:51503617‑51503784，chr6:51503824‑51503825，chr6:51512799‑51512946，chr6:51513500‑51513501，chr6:51513853‑51514048，chr6:51523720‑51524797，chr6:51609153‑51609370，chr6:51611343‑51611344，chr6:51611489‑51611717，chr6:51612514‑51612515，chr6:51612555‑51613493，chr6:51617969‑51618182，chr6:51618696‑51618697，chr6:51619443‑51619444，chr6:51619529‑51619530，chr6:51619537‑51619538，chr6:51619552‑51619766，chr6:51637470‑51637617，chr6:51640576‑51640749，chr6:51640750‑51640751，chr6:51640786‑51640787，chr6:51655962‑51655963，chr6:51656004‑51656201，chr6:51695629‑51695817，chr6:51701089‑51701090，chr6:51701100‑51701101，chr6:51701164‑51701165，chr6:51701172‑51701297，chr6:51701330‑51701331，chr6:51712543‑51712798，chr6:51720661‑51720898，chr6:51732597‑51732598，chr6:51732617‑51732618，chr6:51732627‑51732628，chr6:51732631‑51732937，chr6:51735272‑51735467，chr6:51747237‑51747238，chr6:51747861‑51748055，chr6:51750562‑51750563，chr6:51750635‑51750800，chr6:51751388‑51751389，chr6:51751901‑51752073，chr6:51768351‑51768352，chr6:51768360‑51768361，chr6:51768365‑51768555，chr6:51768754‑51768870，chr6:51770983‑51771168，chr6:51774051‑51774302，chr6:51776567‑51776784，chr6:51776917‑51776918，chr6:51777134‑51777404，chr6:51798878‑51799150，chr6:51824638‑51824854，chr6:51875077‑51875287，chr6:51875298‑51875299，chr6:51882178‑51882457，chr6:51887569‑51887772，chr6:51889342‑51891009，chr6:51891010‑51891011，chr6:51892597‑51892724，chr6:51892924‑51893179，chr6:51897798‑51897993，chr6:51900359‑51900549，chr6:51907627‑51907962，chr6:51908393‑51908558，chr6:51908909‑51908910，chr6:51909524‑51909525，chr6:51909734‑51909916，chr6:51910772‑51911016，chr6:51911406‑51911407，chr6:51912915‑51912916，chr6:51913221‑51913222，chr6:51913236‑51913237，chr6:51913239‑51913240，chr6:51913247‑51913248，chr6:51913252‑51913253，chr6:51913260‑51913447，chr6:51913451‑51913452，chr6:51914897‑51914898，chr6:51914925‑51915123，chr6:51917844‑51918079，chr6:51918531‑51918532，chr6:51918806‑51918993，chr6:51920355‑51920557，chr6:51920558‑51920560，chr6:51920885‑51920886，chr6:51921466‑51921616，chr6:51921658‑51921807，chr6:51923091‑51923429，chr6:51924562‑51924563，chr6:51924696‑51924870，chr6:51924885‑51924886，chr6:51927287‑51927488，chr6:51927665‑51927666，chr6:51929723‑51929878，chr6:51930436‑51930437，chr6:51930744‑51930905，chr6:51934225‑51934355，chr6:51934394‑51934395，chr6:51934732‑51934733，chr6:51934975‑51934976，chr6:51934977‑51934978，chr6:51935060‑51935061，chr6:51935174‑51935273，chr6:51935702‑51935703，chr6:51935746‑51935747，chr6:51935774‑51935898，chr6:51936257‑51936258，chr6:51936505‑51936506，chr6:51936558‑51936559，chr6:51936716‑51936717，chr6:51936883‑51937017，chr6:51937026‑51937027，chr6:51937470‑51937471，chr6:51937752‑51937753，chr6:51937976‑51937977，chr6:51938066‑51938067，chr6:51938209‑51938210，chr6:51938231‑51938369，chr6:51938416‑51938417，chr6:51941044‑51941161，chr6:51944668‑51944836，chr6:51944846‑51944847，chr6:51947160‑51947370，chr6:51947946‑51948083，chr6:51948471‑51948472，chr6:51948574‑51948575，chr6:51949650‑51949731，chr6:51949732‑51949845，chr6:51949861‑51949862，chr6:51952202‑51952453，chr7:107301050‑107301330，chr7:107302054‑107302086，chr7:107302087‑107302280，chr7:107303711‑107303910，chr7:107312553‑107312723，chr7:107314579‑107314823，chr7:107315360‑107315584，chr7:107323617‑107323829，chr7:107323870‑107324012，chr7:107329468‑107329675，chr7:107330539‑107330712，chr7:107334818‑107334955，chr7:107335036‑107335191，chr7:107336348‑107336514，chr7:107338457‑107338586，chr7:107340498‑107340650，chr7:107341516‑107341671，chr7:107342242‑107342532，chr7:107344746‑107344860，chr7:107350469‑107350674，chr7:107352954‑107353097，chr7:107355838‑107355891，chr7:107355892‑107358282，chr5:70220738‑70248868，chr5:70255752‑70255888和chr5:70305353‑70306150。