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Clinica Chimica Acta：家族性地中海热的分子诊断

2019-10-17 gladiator MedSci原创

家族性地中海热
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长程PCR (LR-PCR)用于扩增基因组的靶区。本研究旨在建立利用LR-PCR和大规模并行测序(MPS)技术进行靶向基因测序。

长程PCR (LR-PCR)用于扩增基因组的靶区。本研究旨在建立利用LR-PCR和大规模并行测序(MPS)技术进行靶向基因测序。

研究人员选择14 kb长的MEFV基因，包括整个编码外显子作为靶基因，采用LR-PCR扩增。评价分析因素包括LR-PCR条件、三种pcr后清除方法、两种MPS文库制备方法。

在LR-PCR条件下，Tks Gflex DNA聚合酶在7 min (30-s/kb)退火/扩增条件下，加入100 ng基因组DNA，产量最高。在pcr后纯化方法方面，基于磁珠的方法具有较高的回收率和纯度。在MPS文库制备方法中，基于配体的方法具有较高的靶基覆盖率(94.58%)、均匀性(99.95%)和无链偏倚的靶基覆盖率(97.40%)。采用链接法和转座子法检测Sanger测序确定的外显子变异。

本研究对各种分析因素进行了评估，建立了利用LR-PCR和MPS进行靶向基因测序的流程。这些数据可以使用LR-PCR和MPS优化靶向测序。

原始出处：

Takayuki Ishige，Sakae Itoga，Evaluation of analytical factors associated with targeted MEFV gene sequencing using long-range PCR/massively parallel sequencing of whole blood DNA for molecular diagnosis of Familial Mediterranean fever

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  1. [GetPortalCommentsPageByObjectIdResponse(id=1849763, encodeId=4df61849e63de, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Thu Oct 24 09:08:00 CST 2019, time=2019-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1924306, encodeId=7dd51924306c2, content=<a href='/topic/show?id=ff7f464238f' target=_blank style='color:#2F92EE;'>#家族性地中海热#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=46423, encryptionId=ff7f464238f, topicName=家族性地中海热)], attachment=null, authenticateStatus=null, createdAvatar=https://thirdwx.qlogo.cn/mmopen/vi_32/vLodSSFTQLpHtfwJicWJibSWH7pbiauxvpCMvQIv0N9Oes8vHkDkCIW2HNDkt7icUq3RCZiaDcHR9Rap17fFySRbiaFg/132, createdBy=9f202500205, createdName=ms3297076796458174, createdTime=Thu Aug 06 07:08:00 CST 2020, time=2020-08-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1575505, encodeId=168115e55057e, content=<a href='/topic/show?id=cd9941326bc' target=_blank style='color:#2F92EE;'>#地中海#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41326, encryptionId=cd9941326bc, topicName=地中海)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=303116130321, createdName=wgx311, createdTime=Sat Oct 19 13:08:00 CST 2019, time=2019-10-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622912, encodeId=9ad716229121e, content=<a href='/topic/show?id=517d3168e03' target=_blank style='color:#2F92EE;'>#分子诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=31687, encryptionId=517d3168e03, topicName=分子诊断)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sat Oct 19 13:08:00 CST 2019, time=2019-10-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1629558, encodeId=2904162955831, content=<a href='/topic/show?id=c61d4641821' target=_blank style='color:#2F92EE;'>#家族性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=46418, encryptionId=c61d4641821, topicName=家族性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=26fc21339997, createdName=wetgdt, createdTime=Sat Oct 19 13:08:00 CST 2019, time=2019-10-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=374064, encodeId=608e3e406444, content=好好好好好好, beContent=null, objectType=article, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/08/29/bbc5cc0eed9b8d17623d2fd49dbdf19a.jpg, createdBy=79522135794, createdName=yjs木玉, createdTime=Fri Oct 18 07:53:57 CST 2019, time=2019-10-18, status=1, ipAttribution=)]
    2019-10-24 windight

    #CTA#

    0

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    2020-08-06 ms3297076796458174

    #家族性地中海热#

    0

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    2019-10-19 wgx311

    #地中海#

    0

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    2019-10-19 爆笑小医

    #分子诊断#

    0

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    2019-10-19 wetgdt

    #家族性#

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1849763, encodeId=4df61849e63de, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Thu Oct 24 09:08:00 CST 2019, time=2019-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1924306, encodeId=7dd51924306c2, content=<a href='/topic/show?id=ff7f464238f' target=_blank style='color:#2F92EE;'>#家族性地中海热#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=38, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=46423, encryptionId=ff7f464238f, topicName=家族性地中海热)], attachment=null, authenticateStatus=null, createdAvatar=https://thirdwx.qlogo.cn/mmopen/vi_32/vLodSSFTQLpHtfwJicWJibSWH7pbiauxvpCMvQIv0N9Oes8vHkDkCIW2HNDkt7icUq3RCZiaDcHR9Rap17fFySRbiaFg/132, createdBy=9f202500205, createdName=ms3297076796458174, createdTime=Thu Aug 06 07:08:00 CST 2020, time=2020-08-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1575505, encodeId=168115e55057e, content=<a href='/topic/show?id=cd9941326bc' target=_blank style='color:#2F92EE;'>#地中海#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41326, encryptionId=cd9941326bc, topicName=地中海)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=303116130321, createdName=wgx311, createdTime=Sat Oct 19 13:08:00 CST 2019, time=2019-10-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622912, encodeId=9ad716229121e, content=<a href='/topic/show?id=517d3168e03' target=_blank style='color:#2F92EE;'>#分子诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=31687, encryptionId=517d3168e03, topicName=分子诊断)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sat Oct 19 13:08:00 CST 2019, time=2019-10-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1629558, encodeId=2904162955831, content=<a href='/topic/show?id=c61d4641821' target=_blank style='color:#2F92EE;'>#家族性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=46418, encryptionId=c61d4641821, topicName=家族性)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=26fc21339997, createdName=wetgdt, createdTime=Sat Oct 19 13:08:00 CST 2019, time=2019-10-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=374064, encodeId=608e3e406444, content=好好好好好好, beContent=null, objectType=article, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://cdnapi.center.medsci.cn/medsci/head/2017/08/29/bbc5cc0eed9b8d17623d2fd49dbdf19a.jpg, createdBy=79522135794, createdName=yjs木玉, createdTime=Fri Oct 18 07:53:57 CST 2019, time=2019-10-18, status=1, ipAttribution=)]
    2019-10-18 yjs木玉

    好好好好好好

    0

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