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JCLA：X连锁少汗性外胚层发育不良家族与一种新的外胚层发育不良a基因突变的遗传诊断

2019-01-18 MedSci MedSci原创

外胚层发育不良X连锁
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本研究对一个发生体外发育不良蛋白a (EDA)基因突变的家庭进行基因诊断及产前诊断，并报告了一种新的EDA基因突变。 研究人员对EDA基因的所有编码序列和侧翼序列进行proband的Sanger测序分析，根据EDA基因在proband上的突变情况，对家族成员进行EDA基因测序。基于以上结果，最终确定EDA基因是致病突变，用于产前诊断。 Sanger测序显示c.302 _303delcc

本研究对一个发生体外发育不良蛋白a (EDA)基因突变的家庭进行基因诊断及产前诊断，并报告了一种新的EDA基因突变。

研究人员对EDA基因的所有编码序列和侧翼序列进行proband的Sanger测序分析，根据EDA基因在proband上的突变情况，对家族成员进行EDA基因测序。基于以上结果，最终确定EDA基因是致病突变，用于产前诊断。

Sanger测序显示c.302 _303delcc[p。Pro101HisfsX11]原带EDA基因突变。该突变导致EDA基因移位突变，导致EDA基因翻译提前终止，因为突变位点后第11个密码子存在终止密码子TAA。在proband的母亲和祖母中均发现有该位点的杂合缺失突变(CC/)，但proband的姑姑在该位点无突变。羊水样品的分析表明Y (SRY)和c (c)的性别决定区域为阴性。302_303delCC杂合缺失突变。

研究表明，通过本次研究，研究人员鉴定了X连锁少汗性外胚层发育不良家族EDA基因的一种致病突变，可对该女性携带者进行了产前诊断。

原始出处：

Xin Ma, Xue Lv, Hong‐yan Liu,Genetic diagnosis for X‐linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation

本文系梅斯医学（MedSci）原创编译整理，转载需授权！


 

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  1. [GetPortalCommentsPageByObjectIdResponse(id=1665428, encodeId=ead21665428cb, content=<a href='/topic/show?id=f6fd1891e53' target=_blank style='color:#2F92EE;'>#X连锁#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=18917, encryptionId=f6fd1891e53, topicName=X连锁)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=bdb025960146, createdName=12498ebem27暂无昵称, createdTime=Mon Jul 22 09:59:00 CST 2019, time=2019-07-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347365, encodeId=22f6134e365cb, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Sat Jan 19 23:59:00 CST 2019, time=2019-01-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1567978, encodeId=c588156e97875, content=<a href='/topic/show?id=7a833e94079' target=_blank style='color:#2F92EE;'>#发育不良#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37940, encryptionId=7a833e94079, topicName=发育不良)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30b515313716, createdName=villahu, createdTime=Sat Jan 19 23:59:00 CST 2019, time=2019-01-19, status=1, ipAttribution=)]
    2019-07-22 12498ebem27暂无昵称

    #X连锁#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1665428, encodeId=ead21665428cb, content=<a href='/topic/show?id=f6fd1891e53' target=_blank style='color:#2F92EE;'>#X连锁#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=18917, encryptionId=f6fd1891e53, topicName=X连锁)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=bdb025960146, createdName=12498ebem27暂无昵称, createdTime=Mon Jul 22 09:59:00 CST 2019, time=2019-07-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347365, encodeId=22f6134e365cb, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Sat Jan 19 23:59:00 CST 2019, time=2019-01-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1567978, encodeId=c588156e97875, content=<a href='/topic/show?id=7a833e94079' target=_blank style='color:#2F92EE;'>#发育不良#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37940, encryptionId=7a833e94079, topicName=发育不良)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30b515313716, createdName=villahu, createdTime=Sat Jan 19 23:59:00 CST 2019, time=2019-01-19, status=1, ipAttribution=)]
    2019-01-19 neurowu

    #发育#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1665428, encodeId=ead21665428cb, content=<a href='/topic/show?id=f6fd1891e53' target=_blank style='color:#2F92EE;'>#X连锁#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=18917, encryptionId=f6fd1891e53, topicName=X连锁)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=bdb025960146, createdName=12498ebem27暂无昵称, createdTime=Mon Jul 22 09:59:00 CST 2019, time=2019-07-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1347365, encodeId=22f6134e365cb, content=<a href='/topic/show?id=88713e938c1' target=_blank style='color:#2F92EE;'>#发育#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37938, encryptionId=88713e938c1, topicName=发育)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=f4c124, createdName=neurowu, createdTime=Sat Jan 19 23:59:00 CST 2019, time=2019-01-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1567978, encodeId=c588156e97875, content=<a href='/topic/show?id=7a833e94079' target=_blank style='color:#2F92EE;'>#发育不良#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37940, encryptionId=7a833e94079, topicName=发育不良)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30b515313716, createdName=villahu, createdTime=Sat Jan 19 23:59:00 CST 2019, time=2019-01-19, status=1, ipAttribution=)]
    2019-01-19 villahu

    #发育不良#

    0