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Clin Genet:全外显子组测序鉴定散发性汉族耳聋患者的稀有致病候选变异位点

2019-09-12 AlexYang MedSci原创

听力损失的遗传病因是高度异质性的并且经常具有种族特异性。最近这些年,许多二代测序(NGS)技术开发用于靶向耳聋致病基因。全外显子组测序(WES)很少用于耳聋的遗传测试。最近,有研究人员在预先排除常见耳聋基因GJB2、SLC26A4和MT-RNR1变异后,选择了38名散发性汉族耳聋患者中进行了WES分析。在公共数据库和种族匹配对照中,研究人员非同义变异的微等位基因频率进行了过滤。研究人员在10名患者

听力损失的遗传病因是高度异质性的并且经常具有种族特异性。最近这些年,许多二代测序(NGS)技术开发用于靶向耳聋致病基因。全外显子组测序(WES)很少用于耳聋的遗传测试。

最近,有研究人员在预先排除常见耳聋基因GJB2、SLC26A4和MT-RNR1变异后,选择了38名散发性汉族耳聋患者中进行了WES分析。在公共数据库和种族匹配对照中,研究人员非同义变异的微等位基因频率进行了过滤。研究人员在10名患者中鉴定了8个耳聋致病基因(OTOF、TRIOBP、ESPN、HARS2、CDH23、MYO7A、USH1C和TJP2)的双等位致病变异,共有17个在他们研究中鉴定的变异未被之前的研究报道。而剩下的28名患者中,研究人员鉴定了可能的双等位基因稀有非同义变异(每位患者平均4.7个基因变异)作为候选致病起因用于将来的分析。

最后,研究人员指出,他们的研究表明了WES能够为耳聋提供同义的遗传测试平台,并且能够在发现新的致病基因时进行回溯分析。

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    2020-06-20 canlab
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topicList=[TopicDto(id=7929, encryptionId=4363e929ad, topicName=Gene)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Tue Nov 05 03:38:00 CST 2019, time=2019-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1686306, encodeId=86e516863061d, content=<a href='/topic/show?id=66f3e93862' target=_blank style='color:#2F92EE;'>#Genet#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=75, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7938, encryptionId=66f3e93862, topicName=Genet)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d3e128296421, createdName=江川靖瑶, createdTime=Sat Dec 14 02:38:00 CST 2019, time=2019-12-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1689724, encodeId=8f6d1689e240e, content=<a href='/topic/show?id=4bf4428668c' target=_blank style='color:#2F92EE;'>#外显子组测序#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=99, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42866, encryptionId=4bf4428668c, topicName=外显子组测序)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=d6c628851013, createdName=dlwang_26703136, createdTime=Sun Feb 09 16:38:00 CST 2020, time=2020-02-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2043024, encodeId=59d12043024fe, 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=79, 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=Tue Nov 05 21:38:00 CST 2019, time=2019-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1684256, encodeId=9ed1168425678, content=<a href='/topic/show?id=a2a842865e7' target=_blank style='color:#2F92EE;'>#外显子组#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=87, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42865, encryptionId=a2a842865e7, topicName=外显子组)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f5dc28064977, createdName=achengzhao, createdTime=Sun Feb 02 18:38:00 CST 2020, time=2020-02-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342597, encodeId=e1c8134259ee1, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38102, encryptionId=34cb381023e, topicName=变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Sat Sep 14 04:38:00 CST 2019, time=2019-09-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1619060, encodeId=a7d5161906092, content=<a href='/topic/show?id=492a42862bd' target=_blank style='color:#2F92EE;'>#外显子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=110, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42862, encryptionId=492a42862bd, topicName=外显子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a12645, createdName=docwu2019, createdTime=Sat Sep 14 04:38:00 CST 2019, time=2019-09-14, status=1, ipAttribution=)]
    2019-11-05 cy0324
  5. 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  6. 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  7. 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Sep 14 04:38:00 CST 2019, time=2019-09-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1619060, encodeId=a7d5161906092, content=<a href='/topic/show?id=492a42862bd' target=_blank style='color:#2F92EE;'>#外显子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=110, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42862, encryptionId=492a42862bd, topicName=外显子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a12645, createdName=docwu2019, createdTime=Sat Sep 14 04:38:00 CST 2019, time=2019-09-14, status=1, ipAttribution=)]
    2019-11-05 zxxiang
  8. 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  9. 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  10. 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