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Hypertension：3个互不相关的Liddle综合征家系，致病突变遗传自同一个祖先！

2018-01-01 MedSci MedSci原创

Liddle综合征孟德尔遗传高血压βP617L
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Liddle综合征是罕见的符合孟德尔遗传的高血压。Luca Pagani等人在墨西拿海峡的意大利地区的原住民中发现3个互不相关的家系，都携带上皮细胞钠离子通道的相同突变（βP617L）。本研究目的：1）通过线粒体DNA和Y染色体分析这3个家系是否存在密切的基因关系；2）量化评估3个家系的Liddle综合征患者的基因组相关性，并评估通过血统分享突变的假说。对3个家系个体的线粒体DNA基因组的HVRI

Liddle综合征是罕见的符合孟德尔遗传的高血压。Luca Pagani等人在墨西拿海峡的意大利地区的原住民中发现3个互不相关的家系，都携带上皮细胞钠离子通道的相同突变（βP617L）。本研究目的：1）通过线粒体DNA和Y染色体分析这3个家系是否存在密切的基因关系；2）量化评估3个家系的Liddle综合征患者的基因组相关性，并评估通过血统分享突变的假说。

对3个家系个体的线粒体DNA基因组的HVRI（I号高突变区）和Y染色体短臂的串联重复序列予以分析。对3个家系的所有Liddle综合征患者及其部分亲属鉴定全基因组范围的542 585个单核苷酸多态性。以780名健康意大利成人样本为对照。尽管根据线粒体DNA和Y染色体分析，3个家系属于不同的世系（血统），3位先证者及其受影响的6位亲属携带相同的长约5Mp的包含等位基因突变的单倍体。

利用一个基于合并理论的方法，研究人员估计3个家系所遗传的突变的等位基因是来自于一个共同的祖先，约13代前，这样一位祖先可能造成现在有20位携带者。在这3个家系的起源地，Liddle综合征的患病率可能比全世界估计的要高得多。

原始出处：

Luca Pagani，et al.Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor.Hypetension. December 11，2017.https：//doi.org/10.1161/HYPERTENSIONAHA.117.10491

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    2022-08-20 病毒猎手

    #Liddle综合征#

    0

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    2020-04-08 zmt1139758588

    学习了一种综合征，谢谢分享！

    0

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    2018-03-24 12498ebem19暂无昵称

    #TENS#

    0

  4. 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encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Wed Nov 07 09:36:00 CST 2018, time=2018-11-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=275156, encodeId=93732e515646, content=不错的文章不错的文章, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Wed Jan 03 22:42:55 CST 2018, time=2018-01-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1431060, encodeId=1800143106039, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, 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content=学习了.涨知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20220115/46bcf39c32de4aa6b45c5f9d66c8ee77/6cb4a20c55bb4b7691122f47747bfca2.jpg, createdBy=9dad1662329, createdName=1ddf0692m34(暂无匿称), createdTime=Tue Jan 02 16:30:05 CST 2018, time=2018-01-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=274694, encodeId=49692e469436, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Tue Jan 02 09:36:39 CST 2018, time=2018-01-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=274673, encodeId=04302e4673ab, content=学习谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4Nd44v3xHnnictn9UpctwtH62EPQ59TMdI9lnqHMgQ16nH7GmGCfpzicsHgjibYVk6vwSpXrC86gMibRkoaIzf5HwSz7/0, createdBy=78cc1691107, createdName=龙胆草, createdTime=Tue Jan 02 08:43:12 CST 2018, time=2018-01-02, status=1, ipAttribution=)]
    2018-11-07 feather89

    #PE#

    0

  5. 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    2018-01-03 1e1b8538m79(暂无匿称)

    不错的文章不错的文章

    0

  6. 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encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Wed Nov 07 09:36:00 CST 2018, time=2018-11-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=275156, encodeId=93732e515646, content=不错的文章不错的文章, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Wed Jan 03 22:42:55 CST 2018, time=2018-01-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1431060, encodeId=1800143106039, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Wed Jan 03 12:36:00 CST 2018, time=2018-01-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1501236, encodeId=5aa515012364e, content=<a href='/topic/show?id=f2db9238f9' target=_blank style='color:#2F92EE;'>#Hypertension#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9238, encryptionId=f2db9238f9, topicName=Hypertension)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=11ff9497046, createdName=jambiya, createdTime=Wed Jan 03 12:36:00 CST 2018, time=2018-01-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=274792, encodeId=de652e47921a, content=学习了.涨知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20220115/46bcf39c32de4aa6b45c5f9d66c8ee77/6cb4a20c55bb4b7691122f47747bfca2.jpg, createdBy=9dad1662329, createdName=1ddf0692m34(暂无匿称), createdTime=Tue Jan 02 16:30:05 CST 2018, time=2018-01-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=274694, encodeId=49692e469436, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Tue Jan 02 09:36:39 CST 2018, time=2018-01-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=274673, encodeId=04302e4673ab, content=学习谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4Nd44v3xHnnictn9UpctwtH62EPQ59TMdI9lnqHMgQ16nH7GmGCfpzicsHgjibYVk6vwSpXrC86gMibRkoaIzf5HwSz7/0, createdBy=78cc1691107, createdName=龙胆草, createdTime=Tue Jan 02 08:43:12 CST 2018, time=2018-01-02, status=1, ipAttribution=)]
    2018-01-03 zhouqu_8

    #综合征#

    0

  7. 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createdName=zmt1139758588, createdTime=Wed Apr 08 12:01:26 CST 2020, time=2020-04-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2038802, encodeId=6b512038802b1, content=<a href='/topic/show?id=b45d1e274e8' target=_blank style='color:#2F92EE;'>#TENS#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=17274, encryptionId=b45d1e274e8, topicName=TENS)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3b172500206, createdName=12498ebem19暂无昵称, createdTime=Sat Mar 24 14:36:00 CST 2018, time=2018-03-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1726968, encodeId=7b1e1e26968d7, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, 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=Wed Nov 07 09:36:00 CST 2018, time=2018-11-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=275156, encodeId=93732e515646, content=不错的文章不错的文章, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eff51996281, createdName=1e1b8538m79(暂无匿称), createdTime=Wed Jan 03 22:42:55 CST 2018, time=2018-01-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1431060, encodeId=1800143106039, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, 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content=学习了.涨知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20220115/46bcf39c32de4aa6b45c5f9d66c8ee77/6cb4a20c55bb4b7691122f47747bfca2.jpg, createdBy=9dad1662329, createdName=1ddf0692m34(暂无匿称), createdTime=Tue Jan 02 16:30:05 CST 2018, time=2018-01-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=274694, encodeId=49692e469436, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Tue Jan 02 09:36:39 CST 2018, time=2018-01-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=274673, encodeId=04302e4673ab, content=学习谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4Nd44v3xHnnictn9UpctwtH62EPQ59TMdI9lnqHMgQ16nH7GmGCfpzicsHgjibYVk6vwSpXrC86gMibRkoaIzf5HwSz7/0, createdBy=78cc1691107, createdName=龙胆草, createdTime=Tue Jan 02 08:43:12 CST 2018, time=2018-01-02, status=1, ipAttribution=)]
    2018-01-03 jambiya

    #Hypertension#

    0

  8. 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    2018-01-02 1ddf0692m34(暂无匿称)

    学习了.涨知识

    0

  9. 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    2018-01-02 明月清辉

    谢谢分享.学习了

    0

  10. 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content=学习了.涨知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=66, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20220115/46bcf39c32de4aa6b45c5f9d66c8ee77/6cb4a20c55bb4b7691122f47747bfca2.jpg, createdBy=9dad1662329, createdName=1ddf0692m34(暂无匿称), createdTime=Tue Jan 02 16:30:05 CST 2018, time=2018-01-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=274694, encodeId=49692e469436, content=谢谢分享.学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Tue Jan 02 09:36:39 CST 2018, time=2018-01-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=274673, encodeId=04302e4673ab, content=学习谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4Nd44v3xHnnictn9UpctwtH62EPQ59TMdI9lnqHMgQ16nH7GmGCfpzicsHgjibYVk6vwSpXrC86gMibRkoaIzf5HwSz7/0, createdBy=78cc1691107, createdName=龙胆草, createdTime=Tue Jan 02 08:43:12 CST 2018, time=2018-01-02, status=1, ipAttribution=)]
    2018-01-02 龙胆草

    学习谢谢分享

    0

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