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JCLA：中国散发性先天性心脏病患儿GATA4、NKX2‐5、TBX5、BMP4 CRELD1和22q11.2基因区域拷贝数的变化

2019-06-03 不详 网络

基因区域拷贝数变化
关注

先天性心脏病(CHD)是一种常见的先天缺陷，其病因既有一定的环境因素，也有遗传因素。前期研究在冠心病患者中发现影响心脏相关基因的拷贝数变异(CNVs)过多。 本研究的目的是评估22q11.2区域是否存在CNVs，并确定GATA4、NKX2‐5、TBX5、BMP和CRELD1基因是否参与了中国西南地区CHDs孤立事件的发病机制。 研究人员对西南地区167例散发性冠心病患者进行了研究，包括

先天性心脏病(CHD)是一种常见的先天缺陷，其病因既有一定的环境因素，也有遗传因素。前期研究在冠心病患者中发现影响心脏相关基因的拷贝数变异(CNVs)过多。

本研究的目的是评估22q11.2区域是否存在CNVs，并确定GATA4、NKX2‐5、TBX5、BMP和CRELD1基因是否参与了中国西南地区CHDs孤立事件的发病机制。

研究人员对西南地区167例散发性冠心病患者进行了研究，包括121例室间隔缺损(VSD)、24例房间隔缺损(ASD)、12例法洛四联症(TOF)、6例VSD合并TOF、2例动脉导管未闭(PDA)、2例VSD合并ASD。采用MLPA和拷贝数变异测序(CNV‐Seq)对22q11.2、GATA4、NKX2‐5、TBX5、BMP4和CRELD1区域进行筛选。

研究表明，5例冠心病患者在22q11.2区发现2.5 ~ 2.8 Mb缺失。其中2例诊断为VSD, 2例诊断为VSD和ASD, 1例诊断为TOF。5例患者符合相同的经典DiGeorge综合征。在1例没有心外膜症状的PDA患者中，于22q11.2区域发现了0.86 Mb的重复。

这些数据表明，22q11.2区域的拷贝数变异在中国西南地区冠心病患者中较为常见。无论有无心外症状，结果表明产前筛查冠心病均是必要的。

原始出处：

Zhetao Li,  Jiwei Huang , Copy number variations in the GATA4, NKX2‐5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease

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    2019-12-02 bsmagic9132

    #拷贝数#

    0

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    2020-03-31 HNYYM

    #BMP#

    0

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    2019-07-15 zxxiang

    #散发性#

    0

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    2019-06-05 huirong

    #先天性#

    0

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    2019-06-05 bbjsj_1981

    #ATA#

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1983918, encodeId=1b2e1983918d6, 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=34, 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=Mon Dec 02 12:41:00 CST 2019, time=2019-12-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1634076, encodeId=4b0716340e603, content=<a href='/topic/show?id=596635e549' target=_blank style='color:#2F92EE;'>#BMP#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3575, encryptionId=596635e549, topicName=BMP)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d95322064897, createdName=HNYYM, createdTime=Tue Mar 31 18:41:00 CST 2020, time=2020-03-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2043022, encodeId=0381204302261, content=<a href='/topic/show?id=88535e63128' target=_blank style='color:#2F92EE;'>#散发性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=57631, encryptionId=88535e63128, topicName=散发性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2f5a410, createdName=zxxiang, createdTime=Mon Jul 15 14:41:00 CST 2019, time=2019-07-15, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1369450, encodeId=ed9f136945089, 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=15, 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=Wed Jun 05 13:41:00 CST 2019, time=2019-06-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1466085, encodeId=4c8114660858b, content=<a href='/topic/show?id=217c292009' target=_blank style='color:#2F92EE;'>#ATA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=23, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2920, encryptionId=217c292009, topicName=ATA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=387a6772119, createdName=bbjsj_1981, createdTime=Wed Jun 05 13:41:00 CST 2019, time=2019-06-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1581483, encodeId=319f1581483e9, content=<a href='/topic/show?id=2bc1519579' target=_blank style='color:#2F92EE;'>#CRE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5195, encryptionId=2bc1519579, topicName=CRE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=4ca216802819, createdName=HinsMax, createdTime=Wed Jun 05 13:41:00 CST 2019, time=2019-06-05, status=1, ipAttribution=)]
    2019-06-05 HinsMax

    #CRE#

    0