European Journal of Human Genetics:中国SNHL患者的综合遗传测试和变异解释

2019-10-01 AlexYang MedSci原创

遗传性听力损失是一种单基因遗传病,并且具有高度的异质性。不少于100个耳聋基因在病理发生过程中具有作用。最近,有研究人员评估了SNVs在已知的耳聋基因中的比例,从而对中国散发性和家族性感感觉神经性耳聋患者的病因进行解释。研究人员手搜集了1127名个体的DNA样本,包括616名正常听力的健康对照,433名散发性SNHL患者和来源于30个听力损失谱系的78名耳聋患者。NGS测试包括了129个基因中的序

遗传性听力损失是一种单基因遗传病,并且具有高度的异质性。不少于100个耳聋基因在病理发生过程中具有作用。

最近,有研究人员评估了SNVs在已知的耳聋基因中的比例,从而对中国散发性和家族性感感觉神经性耳聋患者的病因进行解释。研究人员手搜集了1127名个体的DNA样本,包括616名正常听力的健康对照,433名散发性SNHL患者和来源于30个听力损失谱系的78名耳聋患者。NGS测试包括了129个基因中的序列变异情况。研究人员通过遗传性听力损失ACMG/AMP指南,并结合616名匹配的正常听力对照NGS数据对变异位点进行了解释。研究人员在226名散发性SNHL(52.19%)患者和17个耳聋谱系(56.67%)中鉴定了阳性分子诊断。种族匹配的MAF过滤减少了8.7%的未知意义的变异,从6216到5675。研究人员讨论了一些复杂性可能限制了病因变异鉴定。

最后,研究人员指出,他们的研究强调了NGS在鉴定病因变异位点用于诊断临床实用性,并指出了对照和ACMG/AMP标准对VUS变异的准确临床描述的重要性。

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    2020-01-12 feather89
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    2020-03-18 cy0324
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    2020-03-05 tamgche
  5. [GetPortalCommentsPageByObjectIdResponse(id=1728154, encodeId=86791e2815429, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Sun Jan 12 18:03:00 CST 2020, time=2020-01-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1686312, encodeId=d17616863122b, content=<a href='/topic/show?id=66f3e93862' target=_blank style='color:#2F92EE;'>#Genet#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, 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=Wed Oct 09 22:03:00 CST 2019, time=2019-10-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2049234, encodeId=77c3204923487, content=<a href='/topic/show?id=4363e929ad' target=_blank style='color:#2F92EE;'>#Gene#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7929, encryptionId=4363e929ad, topicName=Gene)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Wed Mar 18 06:03:00 CST 2020, time=2020-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1940436, encodeId=b50d19404365a, content=<a href='/topic/show?id=0de4919efc' target=_blank style='color:#2F92EE;'>#human#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9197, encryptionId=0de4919efc, topicName=human)], attachment=null, authenticateStatus=null, createdAvatar=/v1.0.0/img/user_icon.png, createdBy=674961, createdName=tamgche, createdTime=Thu Mar 05 12:03:00 CST 2020, time=2020-03-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1878016, encodeId=192318e801669, content=<a href='/topic/show?id=5d80e943ef' target=_blank style='color:#2F92EE;'>#Genetics#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7943, encryptionId=5d80e943ef, topicName=Genetics)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ca89104, createdName=huperzia, createdTime=Sat Aug 29 04:03:00 CST 2020, time=2020-08-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1734177, encodeId=4a991e34177a8, content=<a href='/topic/show?id=d4f412668a4' target=_blank style='color:#2F92EE;'>#NET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12668, encryptionId=d4f412668a4, topicName=NET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=7ea033781210, createdName=canlab, createdTime=Tue Dec 31 14:03:00 CST 2019, time=2019-12-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342605, encodeId=d02d134260507, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, 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=Thu Oct 03 12:03:00 CST 2019, time=2019-10-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1493229, encodeId=51de1493229d4, content=<a href='/topic/show?id=b46f12e81ed' target=_blank style='color:#2F92EE;'>#NHL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12781, encryptionId=b46f12e81ed, topicName=NHL)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f7839003589, createdName=yzh402, createdTime=Thu Oct 03 12:03:00 CST 2019, time=2019-10-03, status=1, ipAttribution=)]
    2020-08-29 huperzia
  6. [GetPortalCommentsPageByObjectIdResponse(id=1728154, encodeId=86791e2815429, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Sun Jan 12 18:03:00 CST 2020, time=2020-01-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1686312, encodeId=d17616863122b, content=<a href='/topic/show?id=66f3e93862' target=_blank style='color:#2F92EE;'>#Genet#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, 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=Wed Oct 09 22:03:00 CST 2019, time=2019-10-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2049234, encodeId=77c3204923487, content=<a href='/topic/show?id=4363e929ad' target=_blank style='color:#2F92EE;'>#Gene#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7929, encryptionId=4363e929ad, topicName=Gene)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Wed Mar 18 06:03:00 CST 2020, time=2020-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1940436, encodeId=b50d19404365a, content=<a href='/topic/show?id=0de4919efc' target=_blank style='color:#2F92EE;'>#human#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9197, encryptionId=0de4919efc, topicName=human)], attachment=null, authenticateStatus=null, createdAvatar=/v1.0.0/img/user_icon.png, createdBy=674961, createdName=tamgche, createdTime=Thu Mar 05 12:03:00 CST 2020, time=2020-03-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1878016, encodeId=192318e801669, content=<a href='/topic/show?id=5d80e943ef' target=_blank style='color:#2F92EE;'>#Genetics#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7943, encryptionId=5d80e943ef, topicName=Genetics)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ca89104, createdName=huperzia, createdTime=Sat Aug 29 04:03:00 CST 2020, time=2020-08-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1734177, encodeId=4a991e34177a8, content=<a href='/topic/show?id=d4f412668a4' target=_blank style='color:#2F92EE;'>#NET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12668, encryptionId=d4f412668a4, topicName=NET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=7ea033781210, createdName=canlab, createdTime=Tue Dec 31 14:03:00 CST 2019, time=2019-12-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342605, encodeId=d02d134260507, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, 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=Thu Oct 03 12:03:00 CST 2019, time=2019-10-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1493229, encodeId=51de1493229d4, content=<a href='/topic/show?id=b46f12e81ed' target=_blank style='color:#2F92EE;'>#NHL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12781, encryptionId=b46f12e81ed, topicName=NHL)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f7839003589, createdName=yzh402, createdTime=Thu Oct 03 12:03:00 CST 2019, time=2019-10-03, status=1, ipAttribution=)]
    2019-12-31 canlab
  7. [GetPortalCommentsPageByObjectIdResponse(id=1728154, encodeId=86791e2815429, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Sun Jan 12 18:03:00 CST 2020, time=2020-01-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1686312, encodeId=d17616863122b, content=<a href='/topic/show?id=66f3e93862' target=_blank style='color:#2F92EE;'>#Genet#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, 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=Wed Oct 09 22:03:00 CST 2019, time=2019-10-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2049234, encodeId=77c3204923487, content=<a href='/topic/show?id=4363e929ad' target=_blank style='color:#2F92EE;'>#Gene#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7929, encryptionId=4363e929ad, topicName=Gene)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Wed Mar 18 06:03:00 CST 2020, time=2020-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1940436, encodeId=b50d19404365a, content=<a href='/topic/show?id=0de4919efc' target=_blank style='color:#2F92EE;'>#human#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9197, encryptionId=0de4919efc, topicName=human)], attachment=null, authenticateStatus=null, createdAvatar=/v1.0.0/img/user_icon.png, createdBy=674961, createdName=tamgche, createdTime=Thu Mar 05 12:03:00 CST 2020, time=2020-03-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1878016, encodeId=192318e801669, content=<a href='/topic/show?id=5d80e943ef' target=_blank style='color:#2F92EE;'>#Genetics#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7943, encryptionId=5d80e943ef, topicName=Genetics)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ca89104, createdName=huperzia, createdTime=Sat Aug 29 04:03:00 CST 2020, time=2020-08-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1734177, encodeId=4a991e34177a8, content=<a href='/topic/show?id=d4f412668a4' target=_blank style='color:#2F92EE;'>#NET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12668, encryptionId=d4f412668a4, topicName=NET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=7ea033781210, createdName=canlab, createdTime=Tue Dec 31 14:03:00 CST 2019, time=2019-12-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342605, encodeId=d02d134260507, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, 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=Thu Oct 03 12:03:00 CST 2019, time=2019-10-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1493229, encodeId=51de1493229d4, content=<a href='/topic/show?id=b46f12e81ed' target=_blank style='color:#2F92EE;'>#NHL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12781, encryptionId=b46f12e81ed, topicName=NHL)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f7839003589, createdName=yzh402, createdTime=Thu Oct 03 12:03:00 CST 2019, time=2019-10-03, status=1, ipAttribution=)]
  8. [GetPortalCommentsPageByObjectIdResponse(id=1728154, encodeId=86791e2815429, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Sun Jan 12 18:03:00 CST 2020, time=2020-01-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1686312, encodeId=d17616863122b, content=<a href='/topic/show?id=66f3e93862' target=_blank style='color:#2F92EE;'>#Genet#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, 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=Wed Oct 09 22:03:00 CST 2019, time=2019-10-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2049234, encodeId=77c3204923487, content=<a href='/topic/show?id=4363e929ad' target=_blank style='color:#2F92EE;'>#Gene#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7929, encryptionId=4363e929ad, topicName=Gene)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=63a4277, createdName=cy0324, createdTime=Wed Mar 18 06:03:00 CST 2020, time=2020-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1940436, encodeId=b50d19404365a, content=<a href='/topic/show?id=0de4919efc' target=_blank style='color:#2F92EE;'>#human#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9197, encryptionId=0de4919efc, topicName=human)], attachment=null, authenticateStatus=null, createdAvatar=/v1.0.0/img/user_icon.png, createdBy=674961, createdName=tamgche, createdTime=Thu Mar 05 12:03:00 CST 2020, time=2020-03-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1878016, encodeId=192318e801669, content=<a href='/topic/show?id=5d80e943ef' target=_blank style='color:#2F92EE;'>#Genetics#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7943, encryptionId=5d80e943ef, topicName=Genetics)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ca89104, createdName=huperzia, createdTime=Sat Aug 29 04:03:00 CST 2020, time=2020-08-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1734177, encodeId=4a991e34177a8, content=<a href='/topic/show?id=d4f412668a4' target=_blank style='color:#2F92EE;'>#NET#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12668, encryptionId=d4f412668a4, topicName=NET)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=7ea033781210, createdName=canlab, createdTime=Tue Dec 31 14:03:00 CST 2019, time=2019-12-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342605, encodeId=d02d134260507, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, 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=Thu Oct 03 12:03:00 CST 2019, time=2019-10-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1493229, encodeId=51de1493229d4, content=<a href='/topic/show?id=b46f12e81ed' target=_blank style='color:#2F92EE;'>#NHL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12781, encryptionId=b46f12e81ed, topicName=NHL)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f7839003589, createdName=yzh402, createdTime=Thu Oct 03 12:03:00 CST 2019, time=2019-10-03, status=1, ipAttribution=)]
    2019-10-03 yzh402

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