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JCLA：有必要通过GJB3/GJB6筛查原发性听力损失GJB2携带者吗？

2019-01-18 MedSci MedSci原创

原发性听力损失GJB2携带者
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遗传分析发现特发性耳聋个体中存在过多的单等位基因隐性GJB2突变，但在反式/顺式中其余的等位基因尚未确定。本研究旨在评估GJB3或GJB6变异对中国单等位基因GJB2突变患者非综合征型感音神经性听力障碍(NSHI)的影响。 研究人员对一组可能携带GJB2杂合突变的NSHI患者(n = 100)进行GJB3/GJB6编码全序列及GJB6缺失的检测。在一个NSHI中度至重度的多重家族GDHY中，

遗传分析发现特发性耳聋个体中存在过多的单等位基因隐性GJB2突变，但在反式/顺式中其余的等位基因尚未确定。本研究旨在评估GJB3或GJB6变异对中国单等位基因GJB2突变患者非综合征型感音神经性听力障碍(NSHI)的影响。

研究人员对一组可能携带GJB2杂合突变的NSHI患者(n = 100)进行GJB3/GJB6编码全序列及GJB6缺失的检测。在一个NSHI中度至重度的多重家族GDHY中，进一步进行了有针对性的下一代测序。结果显示本队列中GJB3变异的致病因素为1%(1/100)。在GDHY家族中，研究人员鉴定出一种罕见的gjb3c250G>A突变为GJB2 c双杂合子。109G>A和/或一个新的GJB2突变c。在排除127个耳聋基因的其他可归属突变后，预测638T>C在双基因遗传中具有破坏性。并未发现GJB6突变。

结果表明GJB3/GJB6变异在本组常染色体隐性GJB2突变携带者中所占比例较低。通过靶向下一代测序或全外显子组测序发现的环境原因或其他NSHI相关基因可能是这些患者耳聋的主要诱因。

原始出处：

Kaitian Chen, Xuan Wu, Ling Zong, GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?

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    2019-02-26 小刀医生

    #GJB2#

    0

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    2019-01-19 jiyangfei

    #原发性#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=2063800, encodeId=daed206380071, content=<a href='/topic/show?id=334b8040f3' target=_blank style='color:#2F92EE;'>#GJB2#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8040, encryptionId=334b8040f3, topicName=GJB2)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=8306486, createdName=小刀医生, createdTime=Tue Feb 26 00:57:00 CST 2019, time=2019-02-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1846748, encodeId=726d1846e4807, content=<a href='/topic/show?id=d3a33e0306d' target=_blank style='color:#2F92EE;'>#原发性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=19, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37030, encryptionId=d3a33e0306d, topicName=原发性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=8e4c53, createdName=jiyangfei, createdTime=Sat Jan 19 14:57:00 CST 2019, time=2019-01-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2004919, encodeId=d549200491924, content=<a href='/topic/show?id=2f48569264d' target=_blank style='color:#2F92EE;'>#携带者#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=17, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=56926, encryptionId=2f48569264d, topicName=携带者)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=640c454, createdName=qblt, createdTime=Fri Jun 07 05:57:00 CST 2019, time=2019-06-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1306320, encodeId=53f31306320cf, content=<a href='/topic/show?id=aeb639230b7' target=_blank style='color:#2F92EE;'>#听力#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=22, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=39230, encryptionId=aeb639230b7, topicName=听力)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=96d4340, createdName=ysjykql, createdTime=Sat Jan 19 23:57:00 CST 2019, time=2019-01-19, status=1, ipAttribution=)]
    2019-06-07 qblt

    #携带者#

    0

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    2019-01-19 ysjykql

    #听力#

    0