[發明專利]一種檢測染色體羅氏易位的方法

有效

• 申請號: 201610034367.4
• 申請日: 2016-01-19
• 公開（公告）號: CN105543372B
• 公開（公告）日: 2017-04-19
• 發明（設計）人: 馮濤;費嘉;楊凱;劉小軍;徐艷文;周燦權
• 申請（專利權）人: 北京中儀康衛醫療器械有限公司;中山大學附屬第一醫院
• 主分類號: C12Q1/68
• 分類號: C12Q1/68;C12N15/11
• 代理公司: 北京名華博信知識產權代理有限公司11453
• 代理人: 張玉樞

1.一種檢測子代染色體羅氏易位的方法，其特征在于，包括以下步驟：

(1)獲取親代雙方和子代的DNA樣本；

(2)從近端著絲粒染色體的著絲粒附近區域篩選高頻突變SNP位點作為標記；

(3)檢測子代DNA樣本的染色體拷貝數；

(4)針對步驟(2)篩選的SNP位點，確定親代雙方和子代目標位點的基因型；

(5)基于親代雙方和子代的基因型及家系關系，分析親代雙方和子代的單體型；

(6)根據子代的染色體拷貝數檢測結果、親代雙方攜帶染色體羅氏易位的核型、以及親代雙方和子代的單體型，分析子代的染色體羅氏易位情況；

其中，所述子代DNA樣本為從流產組織提取的基因組DNA。

2.根據權利要求1的方法，其中，所述親代DNA樣本是從外周血樣本中提取的父母基因組DNA。

3.根據權利要求1或2的方法，其用于檢測人類染色體羅氏易位。

4.根據權利要求3的方法，其中，所述人類染色體羅氏易位是第13、14、15、21和22號染色體中任意兩條染色體之間發生的易位。

5.根據權利要求3的方法，其中，步驟(2)中SNP位點的篩選標準為：

a.位點位于著絲粒附近10Mb區域內；

b.千人基因組數據庫或者dbSNP數據庫中收錄；

c.SNP位點附近序列在人類基因組中不具有同源性。

6.根據權利要求5的方法，其中，選擇目標人群中最小等位基因頻率(MAF)大于0.2的SNP。

7.根據權利要求5的方法，其中，所述SNP位點選自以下SNP位點或其任意組合：chr13:19602195，chr13:19625370，chr13:19646283，chr13:19692745，chr13:19713634，chr13:19722801，chr13:19732341，chr13:19784913，chr13:19843135，chr13:19877547，chr13:19883672，chr13:19896927，chr13:19917509，chr13:20494558，chr13:20709214，chr13:20747500，chr13:20784332，chr13:20825315，chr13:20864572，chr13:20881859，chr13:20908501，chr13:20938952，chr13:20951425，chr13:20992333，chr13:21012562，chr13:21066214，chr13:21092894，chr13:21112935，chr13:21527671，chr13:21553971，chr13:21575458，chr13:21607760，chr13:21636136，chr13:21655335，chr13:21683681，chr13:21801501，chr13:22197910，chr13:22249975，chr13:22270788，chr13:22340074，chr13:22396664，chr13:22417688，chr13:22473749，chr13:22504691，chr13:22515844，chr13:22523279，chr13:22538311，chr13:22561684，chr13:22640820，chr13:22751654，chr13:22768476，chr13:22780737，chr13:22799808，chr13:22819627，chr13:22835073，chr13:22892864，chr13:22980146，chr14:19472367，chr14:20326905，chr14:20349694，chr14:20383719，chr14:20420387，chr14:20517369，chr14:20527044，chr14:20565487，chr14:20643775，chr14:20670979，chr14:20731036，chr14:20820537，chr14:20905141，chr14:20918598，chr14:21008574，chr14:21048774，chr14:21091127，chr14:21156472，chr14:21195967，chr14:21237137，chr14:21263166，chr14:21313819，chr14:21325985，chr14:21388266，chr14:21452591，chr14:21519915，chr14:21580671，chr14:21625262，chr14:21789092，chr14:21981923，chr14:22053817，chr14:22090208，chr14:22138437，chr14:22210067，chr14:22244363，chr14:22263821，chr14:22312275，chr14:22324460，chr14:22351977，chr14:22361282，chr14:22375208，chr14:22393124，chr14:22428984，chr14:22452496，chr14:22489611，chr14:22518909，chr14:22526966，chr14:22563283，chr14:22611651，chr14:22626948，chr14:22657897，chr14:22702039，chr14:22731529，chr14:22734948，chr14:22741160，chr14:22772663，chr14:22861948，chr14:22972955，chr15:20022190，chr15:20049922，chr15:20189367，chr15:20191854，chr15:20192138，chr15:20454253，chr15:20470948，chr15:20564500，chr15:20569241，chr15:20586537，chr15:20586966，chr15:20590656，chr15:20616721，chr15:20626721，chr15:20646773，chr15:20848359，chr15:20849625，chr15:20852181，chr15:20862156，chr15:20863958，chr15:21905797，chr15:21928397，chr15:21938184，chr15:21940649，chr15:22013203，chr15:22299435，chr15:22302182，chr15:22376163，chr15:22427155，chr15:22441959，chr15:22476195，chr15:22520388，chr15:22539952，chr15:22780065，chr15:22798800，chr15:22833272，chr15:22854479，chr15:22869870，chr15:22893990，chr15:22905599，chr15:22916637，chr15:22923869，chr15:22940961，chr15:22971662，chr15:23000363，chr15:23010627，chr15:23020535，chr15:23044004，chr15:23053813，chr15:23064687，chr15:23721906，chr15:23730971，chr15:23746510，chr15:23767135，chr15:23781336，chr15:23793989，chr15:23816231，chr15:23893430，chr15:23929209，chr15:24006330，chr15:24055535，chr15:24129894，chr15:24166516，chr15:24196094，chr15:24236177，chr15:24278723，chr15:24319610，chr15:24350583，chr15:24471640，chr15:24824114，chr15:24870875，chr15:24913763，chr15:24943341，chr15:24974072，chr21:14640496，chr21:14643423，chr21:14695894，chr21:14756515，chr21:14818516，chr21:14890028，chr21:15012159，chr21:15026905，chr21:15170049，chr21:15280687，chr21:15300595，chr21:15445542，chr21:15479041，chr21:15501432，chr21:15548748，chr21:15566056，chr21:15588845，chr21:15625530，chr21:15654618，chr21:15681452，chr21:15720558，chr21:15763305，chr21:15842397，chr21:15884516，chr21:15916232，chr21:15942816，chr21:15984234，chr21:16027704，chr21:16063848，chr21:16122140，chr21:16160041，chr21:16193235，chr21:16238898，chr21:16315932，chr21:16353639，chr21:16384555，chr21:16448591，chr21:16578538，chr21:16645724，chr21:16717265，chr21:16833315，chr21:16881542，chr21:17000938，chr21:17054831，chr21:17140290，chr21:17203891，chr21:17295288，chr21:17340912，chr21:17536247，chr21:17640426，chr21:17673255，chr21:17713264，chr21:17748703，chr21:17781159，chr21:17823782，chr21:18003355，chr21:18046650，chr21:18114449，chr21:18151760，chr21:18182817，chr21:18250262，chr21:18337678，chr21:18385770，chr21:18420873，chr21:18457287，chr21:18586049，chr21:18650837，chr21:18740886，chr21:18858018，chr21:18936951，chr21:19002939，chr21:19064396，chr21:19139888，chr21:19254923，chr21:19316600，chr22:16415691，chr22:16554800，chr22:16848067，chr22:16850056，chr22:16850858，chr22:16851557，chr22:16852464，chr22:16852792，chr22:16853453，chr22:16854397，chr22:16855647，chr22:16856500，chr22:16857432，chr22:16858287，chr22:16860547，chr22:16861742，chr22:16867995，chr22:17031697，chr22:17271213，chr22:17293257，chr22:17409957，chr22:17442318，chr22:17469090，chr22:17525677，chr22:17563259，chr22:17587785，chr22:17619511，chr22:17656792，chr22:17682387，chr22:17715164，chr22:17739757，chr22:17761489，chr22:17785311，chr22:17805528，chr22:17841251，chr22:17883346，chr22:17916190，chr22:17939998，chr22:17981144，chr22:18012297，chr22:18054406，chr22:18212058，chr22:18276198，chr22:18354015，chr22:18395978，chr22:18466951，chr22:18531582，chr22:18581715，chr22:18628321，chr22:18894617，chr22:18966077，chr22:19004846，chr22:19025459，chr22:19098323，chr22:19142652，chr22:19236590，chr22:19362714，chr22:19431588，chr22:19536367，chr22:19643965，chr22:19716983，chr22:19759532，chr22:19808057，chr22:19859087，chr22:19909387，chr22:19972494，chr22:20016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