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若没有测序,这种疾病也许无人知晓

2016-09-09 佚名 生物通

2009年,Mayer及其同事对Nic Volker的外显子组进行了测序,这个男孩患了一种无法确诊的疾病,食物会造成他的肠道穿孔。通过外显子组测序,Mayer等发现了XIAP基因突变,之后利用脐带血进行治疗。Volker也成为世界上第一批通过测序来治病的患者。

威斯康辛儿童医院的Alan Mayer盯着重症监护室的墙,一副心事重重的样子。因为他的病人,年仅15个月大的Addyson Valley,生命垂危。儿科胃肠专家已给她用了最高剂量的钙和磷,但她的水平仍然低得让人绝望。钙的缺乏使得这名婴儿的心脏几乎停止跳动。

同时,Addyson的肠道正泄漏蛋白质,破坏肠道的功能,人们担心过多的体液会将她的身体变成沼泽。出生之后,Addyson总是生病,在食用大多数食物后发生喷射性呕吐。她的配方奶粉换了一个又一个,检查做了一次又一次,但没有人知道她得了什么病。在进入重症监护室之后,她还是每况愈下。

“我们停止喂她,”Mayer告诉医务人员。说这话时,他意识到他之前经历过这种状况。“Nic的故事又发生了。”

2009年,Mayer及其同事对Nic Volker的外显子组进行了测序,这个男孩患了一种无法确诊的疾病,食物会造成他的肠道穿孔。通过外显子组测序,Mayer等发现了XIAP基因突变,之后利用脐带血进行治疗。Volker也成为世界上第一批通过测序来治病的患者。

如今,Mayer认为Addyson也许可以通过同样的方式来治疗。他采集了女孩的血液样本,用于测序。尽管Nic的测序和分析花了大约四个月的时间,但Addyson的进度要快得多 – 只要4个星期。技术的改进已经提高了测序的速度,同时降低了成本。

测序发现,Addyson在同一个基因DGAT1上有两个独立的突变。这些突变意味着她缺乏关键的酶来吸收脂类。这也解释了她的喷射性呕吐和发育不良。她的身体,特别是她的肠道,排斥任何含有脂类的配方奶粉及其他食物。

出于好奇,Mayer咨询了胃肠病方面的学家,了解他们是否碰到类似的病例。他收到了一些回复,的确有一些患者患有这种新的疾病,都是通过DNA测序诊断的。这种疾病被称为DGAT1缺乏症。“这种疾病无人知晓,直到有了外显子组测序,”Mayer说。

有了诊断结果之后,Mayer给Addyson准备了一份无脂肪的食谱。由于儿童的大脑发育需要脂肪,故Addyson通过静脉注射获得一些。这样脂肪就不会经过她的肠道。如今,这个孩子吃脱脂牛奶,脱脂奶酪、蛋白以及大量的水果和蔬菜。

Addyson已经19个月了,尽管她看上去只有1岁,但她的进步是显著的。她可以自己一个人满屋子走,也喜欢搭积木和听妈妈读书。“这几乎是一个全新的孩子,”她的妈妈说。

对于Addyson的疾病,过去医生是无法诊断的,如今有了外显子组测序,一切变得不同。

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    2016-09-23 1e10c84am36(暂无匿称)

    文章不错,继续学习

    0

  2. 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    2016-09-13 1dd8a7c5m95(暂无匿称)

    学习了,赞一个!!!

    0

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beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122878, encodeId=63971228e852, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122879, encodeId=35551228e945, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=)]
    2016-09-12 doctorJiangchao

    继续学习

    0

  4. 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status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122879, encodeId=35551228e945, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=)]
    2016-09-12 doctorJiangchao

    继续关注

    0

  5. 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beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122878, encodeId=63971228e852, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122879, encodeId=35551228e945, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=)]
    2016-09-12 jyzxjiangqin

    医学不断进步发展。

    0

  6. 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topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 20:25:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122921, encodeId=1e231229215a, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=93, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 20:25:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122877, encodeId=e1c01228e73e, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122878, encodeId=63971228e852, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122879, encodeId=35551228e945, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=)]
    2016-09-11 1dd8a7c5m95(暂无匿称)

    学习了,赞一个!!!

    0

  7. [GetPortalCommentsPageByObjectIdResponse(id=133597, encodeId=608c13359e8b, content=文章不错,继续学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=95, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzdAIB7UwTkHt6fQkBP8ictliaXtc5gCUmYdAW1sAETC2nhO3q6YjRHkUibyOCtP8ibmXNObTyd63A076/0, createdBy=d4111948983, createdName=1e10c84am36(暂无匿称), createdTime=Fri Sep 23 16:00:00 CST 2016, time=2016-09-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=124909, encodeId=a34f1249094d, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=98, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, 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topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 20:25:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122921, encodeId=1e231229215a, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=93, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 20:25:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122877, encodeId=e1c01228e73e, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122878, encodeId=63971228e852, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=49, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122879, encodeId=35551228e945, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=)]
    2016-09-11 1dd8a7c5m95(暂无匿称)

    学习了,赞一个!!!

    0

  8. 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status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=122879, encodeId=35551228e945, content=学习了,赞一个!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=86, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfNLvzZhgPxRuUXgacXpPeW0x8Z3Qr9c3I2kTic4ZIpR29iaftYgkjRcbv982icYMtqANBPYBgPnOia6mVtX76qMXuc/0, createdBy=ebe61630855, createdName=1dd8a7c5m95(暂无匿称), createdTime=Sun Sep 11 19:52:00 CST 2016, time=2016-09-11, status=1, ipAttribution=)]
    2016-09-11 1dd8a7c5m95(暂无匿称)

    学习了,赞一个!!!

    0

  9. 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    2016-09-11 1dd8a7c5m95(暂无匿称)

    学习了,赞一个!!!

    0

  10. 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    2016-09-11 1dd8a7c5m95(暂无匿称)

    学习了,赞一个!!!

    0

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