[发明专利]组合物及其在序列测定和变异检测中的用途

权利要求书

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，chr6:51936505-51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