CLIN CHEM：单分子分子倒位探针捕获和拷贝数缺失多态性的高通量测序对嵌合体的超灵敏检测

2018-04-11 MedSci MedSci原创

来自不同遗传起源的细胞的共同出现-----基因组嵌合现象，可在不同的临床背景中提供重要的诊断信息，包括移植物损伤检测和造血干细胞移植患者的纵向监测，但是现有的检测方法仍然受限。在这里，研究人员应用了一种高通量测序技术-----单分子分子倒位探针（smMIPs），结合了多重靶标捕获和独特分子识别介导的读取定量，根据是否存在多态性基因组位点检测嵌合体。研究人员针对40个常染色体区域的频繁纯合缺

来自不同遗传起源的细胞的共同出现-----基因组嵌合现象，可在不同的临床背景中提供重要的诊断信息，包括移植物损伤检测和造血干细胞移植患者的纵向监测，但是现有的检测方法仍然受限。在这里，研究人员应用了一种高通量测序技术-----单分子分子倒位探针（smMIPs），结合了多重靶标捕获和独特分子识别介导的读取定量，根据是否存在多态性基因组位点检测嵌合体。研究人员针对40个常染色体区域的频繁纯合缺失人群和2个性连锁基因座，设计了一个159-smMIP。此外，还开发了用于检测和定量1个细胞群中缺失，但存在于另一个细胞群中的基因座的方法，可以用于灵敏地识别嵌合细胞群。在所检查的基因座中，不相关个体和一级亲属均具有高度多态性。使用合成的DNA混合物，在不知道基因型的情况下，证明了10000个嵌合细胞中至少1个的检测极限，并且可以将多达4个独立供体的混合物分析清楚。在85000个事件中实现了4个数量级的定量线性度和<1的假阳性率。常规方法检测残留癌症阳性的血液恶性肿瘤患者的11例移植后临床标本中，有11例通过smMIP检测到嵌合群体，而11例常规方法检测为阴性的标本中，smMIP低嵌合体阳性

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#插入话题

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2018-05-06 millore

#嵌合体#

38 0
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2018-11-15 医生2406

#高通量测序#

32 0
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2019-03-12 caobinglei8079

#单分子#

30 0
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2018-12-31 lvygwyt2793

#探针#

38 0
[GetPortalCommentsPageByObjectIdResponse(id=2079637, encodeId=34fb20e9637e6, content=<a href='/topic/show?id=ec074e823ea' target=_blank style='color:#2F92EE;'>#嵌合体#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=47823, encryptionId=ec074e823ea, topicName=嵌合体)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c0e3195, createdName=millore, createdTime=Sun May 06 04:52:00 CST 2018, time=2018-05-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1749270, encodeId=267e1e4927029, content=<a href='/topic/show?id=14bf102e64c1' target=_blank style='color:#2F92EE;'>#高通量测序#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102764, encryptionId=14bf102e64c1, topicName=高通量测序)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=28a536265959, createdName=医生2406, createdTime=Thu Nov 15 18:52:00 CST 2018, time=2018-11-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1944106, encodeId=128b1944106d3, content=<a href='/topic/show?id=be6436145d0' target=_blank style='color:#2F92EE;'>#单分子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=36145, encryptionId=be6436145d0, topicName=单分子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=5e30378, createdName=caobinglei8079, createdTime=Tue Mar 12 00:52:00 CST 2019, time=2019-03-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1743935, encodeId=ad711e439352e, content=<a href='/topic/show?id=8fcd566e89c' target=_blank style='color:#2F92EE;'>#探针#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56678, encryptionId=8fcd566e89c, topicName=探针)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f76635239744, createdName=lvygwyt2793, createdTime=Mon Dec 31 09:52:00 CST 2018, time=2018-12-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1983906, encodeId=f5e8198390636, content=<a href='/topic/show?id=3a375629858' target=_blank style='color:#2F92EE;'>#拷贝数#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56298, encryptionId=3a375629858, topicName=拷贝数)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3eaf430, createdName=bsmagic9132, createdTime=Thu Jul 12 23:52:00 CST 2018, time=2018-07-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1969427, encodeId=b67d196942e36, content=<a href='/topic/show?id=6532102e6059' target=_blank style='color:#2F92EE;'>#高通量#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102760, encryptionId=6532102e6059, topicName=高通量)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad7f282, createdName=yang0210, createdTime=Mon Dec 10 01:52:00 CST 2018, time=2018-12-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1629253, encodeId=176116292534c, content=<a href='/topic/show?id=0c1c4325170' target=_blank style='color:#2F92EE;'>#多态性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=43251, encryptionId=0c1c4325170, topicName=多态性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d83c21331263, createdName=xzw120, createdTime=Fri Apr 13 04:52:00 CST 2018, time=2018-04-13, status=1, ipAttribution=)]
2018-07-12 bsmagic9132

#拷贝数#

20 0
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2018-12-10 yang0210

#高通量#

30 0
[GetPortalCommentsPageByObjectIdResponse(id=2079637, encodeId=34fb20e9637e6, content=<a href='/topic/show?id=ec074e823ea' target=_blank style='color:#2F92EE;'>#嵌合体#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=47823, encryptionId=ec074e823ea, topicName=嵌合体)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=c0e3195, createdName=millore, createdTime=Sun May 06 04:52:00 CST 2018, time=2018-05-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1749270, encodeId=267e1e4927029, content=<a href='/topic/show?id=14bf102e64c1' target=_blank style='color:#2F92EE;'>#高通量测序#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102764, encryptionId=14bf102e64c1, topicName=高通量测序)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=28a536265959, createdName=医生2406, createdTime=Thu Nov 15 18:52:00 CST 2018, time=2018-11-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1944106, encodeId=128b1944106d3, content=<a href='/topic/show?id=be6436145d0' target=_blank style='color:#2F92EE;'>#单分子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=36145, encryptionId=be6436145d0, topicName=单分子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=5e30378, createdName=caobinglei8079, createdTime=Tue Mar 12 00:52:00 CST 2019, time=2019-03-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1743935, encodeId=ad711e439352e, content=<a href='/topic/show?id=8fcd566e89c' target=_blank style='color:#2F92EE;'>#探针#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56678, encryptionId=8fcd566e89c, topicName=探针)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f76635239744, createdName=lvygwyt2793, createdTime=Mon Dec 31 09:52:00 CST 2018, time=2018-12-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1983906, encodeId=f5e8198390636, content=<a href='/topic/show?id=3a375629858' target=_blank style='color:#2F92EE;'>#拷贝数#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56298, encryptionId=3a375629858, topicName=拷贝数)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3eaf430, createdName=bsmagic9132, createdTime=Thu Jul 12 23:52:00 CST 2018, time=2018-07-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1969427, encodeId=b67d196942e36, content=<a href='/topic/show?id=6532102e6059' target=_blank style='color:#2F92EE;'>#高通量#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102760, encryptionId=6532102e6059, topicName=高通量)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad7f282, createdName=yang0210, createdTime=Mon Dec 10 01:52:00 CST 2018, time=2018-12-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1629253, encodeId=176116292534c, content=<a href='/topic/show?id=0c1c4325170' target=_blank style='color:#2F92EE;'>#多态性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=43251, encryptionId=0c1c4325170, topicName=多态性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d83c21331263, createdName=xzw120, createdTime=Fri Apr 13 04:52:00 CST 2018, time=2018-04-13, status=1, ipAttribution=)]
2018-04-13 xzw120

#多态性#

20 0

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CLIN CHEM：单分子分子倒位探针捕获和拷贝数缺失多态性的高通量测序对嵌合体的超灵敏检测

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