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Clinica Chimica Acta：220例先天性甲状腺功能减退症患者TSHR基因的突变筛查

2019-11-23 MedSci MedSci原创

先天性甲状腺功能减退症患者
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人类促甲状腺激素受体(TSHR)基因缺陷是导致先天性甲状腺功能减退症(CH)的原因之一。本研究的目的是识别中国CH患者的突变，并分析TSHR表型与临床表型的关系。

人类促甲状腺激素受体(TSHR)基因缺陷是导致先天性甲状腺功能减退症(CH)的原因之一。本研究的目的是识别中国CH患者的突变，并分析TSHR表型与临床表型的关系。

研究人员通过对220例原发性CH患者进行下一代测序，筛选TSHR突变。分析了TSHR的所有外显子和外显子-内含子边界。进一步研究了8个突变体在TSHR中的作用。

在220例CH患者中，13例(5.91%，13/220，包括之前报道的110例患者，8例患者中有10个突变)中发现15个TSHR突变。本研究在110例CH患者的附加队列中发现了5个不同的突变，并确定了7个突变(包括一个新的突变，p.S567R)是功能缺失突变。

研究表明，在中国CH患者中，TSHR突变的患病率为5.91%，并发现了一种新的TSHR突变，并发现了四种基因改变，其中Ile216、Ala275、Asn372、Ser567残基在信号传导中起重要作用。

原始出处：

Ya Fang，Feng Sun，Mutation screening of the TSHR gene in 220 Chinese patients with congenital hypothyroidism

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    2020-03-18 windight

    #CTA#

    0

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    2019-11-25 huirong

    #先天性#

    0

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    2019-11-25 xinxin088

    #TSH#

    0

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    2019-11-23 14794e5bm67(暂无昵称)

    非常好的研究，受益良多

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=1849800, encodeId=1a6918498006a, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Wed Mar 18 16:25:00 CST 2020, time=2020-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1369474, encodeId=c4d713694e46e, content=<a href='/topic/show?id=bc9f28589d0' target=_blank style='color:#2F92EE;'>#先天性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=28589, encryptionId=bc9f28589d0, topicName=先天性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a435298, createdName=huirong, createdTime=Mon Nov 25 12:25:00 CST 2019, time=2019-11-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1407805, encodeId=a778140e805f1, content=<a href='/topic/show?id=e0731e891b9' target=_blank style='color:#2F92EE;'>#TSH#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=17891, encryptionId=e0731e891b9, topicName=TSH)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=74808, createdName=xinxin088, createdTime=Mon Nov 25 12:25:00 CST 2019, time=2019-11-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375743, encodeId=bec83e5743b0, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:21 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375742, encodeId=dba63e574206, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:18 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375741, encodeId=48f83e574111, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:16 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375740, encodeId=54f93e5740b0, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:13 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375739, encodeId=e9af3e57390d, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:09 CST 2019, time=2019-11-23, status=1, ipAttribution=)]
    2019-11-23 14794e5bm67(暂无昵称)

    非常好的研究，受益良多

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1849800, encodeId=1a6918498006a, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Wed Mar 18 16:25:00 CST 2020, time=2020-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1369474, encodeId=c4d713694e46e, content=<a href='/topic/show?id=bc9f28589d0' target=_blank style='color:#2F92EE;'>#先天性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=28589, encryptionId=bc9f28589d0, topicName=先天性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a435298, createdName=huirong, createdTime=Mon Nov 25 12:25:00 CST 2019, time=2019-11-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1407805, encodeId=a778140e805f1, content=<a href='/topic/show?id=e0731e891b9' target=_blank style='color:#2F92EE;'>#TSH#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=17891, encryptionId=e0731e891b9, topicName=TSH)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=74808, createdName=xinxin088, createdTime=Mon Nov 25 12:25:00 CST 2019, time=2019-11-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375743, encodeId=bec83e5743b0, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:21 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375742, encodeId=dba63e574206, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:18 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375741, encodeId=48f83e574111, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:16 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375740, encodeId=54f93e5740b0, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:13 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375739, encodeId=e9af3e57390d, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:09 CST 2019, time=2019-11-23, status=1, ipAttribution=)]
    2019-11-23 14794e5bm67(暂无昵称)

    非常好的研究，受益良多

    0

  7. [GetPortalCommentsPageByObjectIdResponse(id=1849800, encodeId=1a6918498006a, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Wed Mar 18 16:25:00 CST 2020, time=2020-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1369474, encodeId=c4d713694e46e, content=<a href='/topic/show?id=bc9f28589d0' target=_blank style='color:#2F92EE;'>#先天性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=28589, encryptionId=bc9f28589d0, topicName=先天性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a435298, createdName=huirong, createdTime=Mon Nov 25 12:25:00 CST 2019, time=2019-11-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1407805, encodeId=a778140e805f1, content=<a href='/topic/show?id=e0731e891b9' target=_blank style='color:#2F92EE;'>#TSH#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=17891, encryptionId=e0731e891b9, topicName=TSH)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=74808, createdName=xinxin088, createdTime=Mon Nov 25 12:25:00 CST 2019, time=2019-11-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375743, encodeId=bec83e5743b0, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:21 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375742, encodeId=dba63e574206, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:18 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375741, encodeId=48f83e574111, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:16 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375740, encodeId=54f93e5740b0, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:13 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375739, encodeId=e9af3e57390d, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:09 CST 2019, time=2019-11-23, status=1, ipAttribution=)]
    2019-11-23 14794e5bm67(暂无昵称)

    非常好的研究，受益良多

    0

  8. [GetPortalCommentsPageByObjectIdResponse(id=1849800, encodeId=1a6918498006a, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Wed Mar 18 16:25:00 CST 2020, time=2020-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1369474, encodeId=c4d713694e46e, content=<a href='/topic/show?id=bc9f28589d0' target=_blank style='color:#2F92EE;'>#先天性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=28589, encryptionId=bc9f28589d0, topicName=先天性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a435298, createdName=huirong, createdTime=Mon Nov 25 12:25:00 CST 2019, time=2019-11-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1407805, encodeId=a778140e805f1, content=<a href='/topic/show?id=e0731e891b9' target=_blank style='color:#2F92EE;'>#TSH#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=17891, encryptionId=e0731e891b9, topicName=TSH)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=74808, createdName=xinxin088, createdTime=Mon Nov 25 12:25:00 CST 2019, time=2019-11-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375743, encodeId=bec83e5743b0, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:21 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375742, encodeId=dba63e574206, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:18 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375741, encodeId=48f83e574111, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:16 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375740, encodeId=54f93e5740b0, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=61, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:13 CST 2019, time=2019-11-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=375739, encodeId=e9af3e57390d, content=非常好的研究，受益良多, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7b005228115, createdName=14794e5bm67(暂无昵称), createdTime=Sat Nov 23 21:58:09 CST 2019, time=2019-11-23, status=1, ipAttribution=)]
    2019-11-23 14794e5bm67(暂无昵称)

    非常好的研究，受益良多

    0