J Clin Pharm Ther:又一种“致癌”基因突变确定,或将带来全新治癌方案!

2017-09-23 佚名 Medicalxpress

在巴塞罗那自治大学遗传学和微生物学教授主导的一项研究中,研究人员确定了一个新的遗传综合症引起的突变,FANCM基因突变的两个副本,也称为双等位基因突变。这一结果发表在《医学遗传学》杂志上,该杂志是美国医学遗传学学会的官方刊物,也是《自然》杂志的一部分。研究结果表明,这些突变会使人体对肿瘤的早期形成和化疗毒性产生影响。

在巴塞罗那自治大学遗传学和微生物学教授主导的一项研究中,研究人员确定了一个新的遗传综合症引起的突变,FANCM基因突变的两个副本,也称为双等位基因突变。这一结果发表在《医学遗传学》杂志上,该杂志是美国医学遗传学学会的官方刊物,也是《自然》杂志的一部分。研究结果表明,这些突变会使人体对肿瘤的早期形成和化疗毒性产生影响。

在此次研究中,研究人员分析了FANCM基因的双等位基因突变,证据表明,FANCM基因与多种疾病有关,比如患乳腺癌的风险更高,化疗毒性和副作用更强,染色体更脆弱。很多参与研究的FANCM基因突变的参与者在很小的时候就患上了癌症,而且也有化疗的毒性。因此,考虑到新综合征,作者建议修改FANCM基因中双等位基因突变的临床监测,并在使用化疗和放射治疗时采取预防措施。

在这项研究中,研究人员进行了功能互补测试,这是大规模测序项目中非常重要的一种分析类型,在这些项目中有一些突变的基因,目前还不清楚哪些基因是疾病的来源。病人的细胞对DEB有明显的化学敏感性,这是一种对DNA造成损害的药物(病人的细胞不能在高剂量的DEB中存活)。与此相反,当一个健康的FANCM基因拷贝转移到患者的细胞中时,研究人员观察到这种表型和细胞的逆转,就好像它们是健康的,本功能研究是基因的证明,导致该疾病的基因是FANCM,因此在该基因中观察到的突变具有致病性。

原始出处:
Rana H, Ferguson N, Dicpinigaitis PV1.Diabetes insipidus after discontinuation of vasopressin infusion for septic shock.J Clin Pharm Ther. 2017 Sep 11. doi: 10.1111/jcpt.12627. [Epub ahead of print]

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    2017-11-24 jj000001
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    2018-08-19 yinhl1990
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    2017-09-29 大爰

    学习了谢谢分享!!

    0

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replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eb131638261, createdName=lietome24, createdTime=Tue Sep 26 12:41:55 CST 2017, time=2017-09-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1370918, encodeId=1add13e09184a, content=<a href='/topic/show?id=9c39864991e' target=_blank style='color:#2F92EE;'>#致癌#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=86499, encryptionId=9c39864991e, topicName=致癌)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2c25323, createdName=jambiya, createdTime=Mon Sep 25 13:21:00 CST 2017, time=2017-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247542, encodeId=badd24e542f9, content=学习并分享!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=53, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200816/e4675a86ea694f12b82202b320dc2654/12f6b900498349e994ce8f516a584d6a.jpg, createdBy=09431951290, createdName=大爰, createdTime=Mon Sep 25 09:38:47 CST 2017, time=2017-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247387, encodeId=d64624e3876e, content=谢谢分享.感觉收获很大!, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好!, createdTime=Sun Sep 24 23:52:46 CST 2017, time=2017-09-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247093, encodeId=215624e093fc, content=学习了.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=550d2008262, createdName=luominglian113, createdTime=Sun Sep 24 00:14:16 CST 2017, time=2017-09-24, status=1, ipAttribution=)]
    2017-09-28 虈亣靌

    学习了获益匪浅

    0

  5. 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replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eb131638261, createdName=lietome24, createdTime=Tue Sep 26 12:41:55 CST 2017, time=2017-09-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1370918, encodeId=1add13e09184a, content=<a href='/topic/show?id=9c39864991e' target=_blank style='color:#2F92EE;'>#致癌#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=86499, encryptionId=9c39864991e, topicName=致癌)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2c25323, createdName=jambiya, createdTime=Mon Sep 25 13:21:00 CST 2017, time=2017-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247542, encodeId=badd24e542f9, content=学习并分享!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=53, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200816/e4675a86ea694f12b82202b320dc2654/12f6b900498349e994ce8f516a584d6a.jpg, createdBy=09431951290, createdName=大爰, createdTime=Mon Sep 25 09:38:47 CST 2017, time=2017-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247387, encodeId=d64624e3876e, content=谢谢分享.感觉收获很大!, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好!, createdTime=Sun Sep 24 23:52:46 CST 2017, time=2017-09-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247093, encodeId=215624e093fc, content=学习了.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=550d2008262, createdName=luominglian113, createdTime=Sun Sep 24 00:14:16 CST 2017, time=2017-09-24, status=1, ipAttribution=)]
    2017-09-26 䖝二

    优秀

    0

  6. 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topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200816/e4675a86ea694f12b82202b320dc2654/12f6b900498349e994ce8f516a584d6a.jpg, createdBy=09431951290, createdName=大爰, createdTime=Mon Sep 25 09:38:47 CST 2017, time=2017-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247387, encodeId=d64624e3876e, content=谢谢分享.感觉收获很大!, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好!, createdTime=Sun Sep 24 23:52:46 CST 2017, time=2017-09-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247093, encodeId=215624e093fc, content=学习了.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=550d2008262, createdName=luominglian113, createdTime=Sun Sep 24 00:14:16 CST 2017, time=2017-09-24, status=1, ipAttribution=)]
    2017-09-26 lietome24

    好文.值得点赞!认真学习.应用于实践!谢谢分享给广大同好!

    0

  7. 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topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200816/e4675a86ea694f12b82202b320dc2654/12f6b900498349e994ce8f516a584d6a.jpg, createdBy=09431951290, createdName=大爰, createdTime=Mon Sep 25 09:38:47 CST 2017, time=2017-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247387, encodeId=d64624e3876e, content=谢谢分享.感觉收获很大!, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好!, createdTime=Sun Sep 24 23:52:46 CST 2017, time=2017-09-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247093, encodeId=215624e093fc, content=学习了.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=550d2008262, createdName=luominglian113, createdTime=Sun Sep 24 00:14:16 CST 2017, time=2017-09-24, status=1, ipAttribution=)]
    2017-09-25 jambiya
  8. 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topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200816/e4675a86ea694f12b82202b320dc2654/12f6b900498349e994ce8f516a584d6a.jpg, createdBy=09431951290, createdName=大爰, createdTime=Mon Sep 25 09:38:47 CST 2017, time=2017-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247387, encodeId=d64624e3876e, content=谢谢分享.感觉收获很大!, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好!, createdTime=Sun Sep 24 23:52:46 CST 2017, time=2017-09-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247093, encodeId=215624e093fc, content=学习了.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=550d2008262, createdName=luominglian113, createdTime=Sun Sep 24 00:14:16 CST 2017, time=2017-09-24, status=1, ipAttribution=)]
    2017-09-25 大爰

    学习并分享!!

    0

  9. 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replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=eb131638261, createdName=lietome24, createdTime=Tue Sep 26 12:41:55 CST 2017, time=2017-09-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1370918, encodeId=1add13e09184a, content=<a href='/topic/show?id=9c39864991e' target=_blank style='color:#2F92EE;'>#致癌#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=86499, encryptionId=9c39864991e, topicName=致癌)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2c25323, createdName=jambiya, createdTime=Mon Sep 25 13:21:00 CST 2017, time=2017-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247542, encodeId=badd24e542f9, content=学习并分享!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=53, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200816/e4675a86ea694f12b82202b320dc2654/12f6b900498349e994ce8f516a584d6a.jpg, createdBy=09431951290, createdName=大爰, createdTime=Mon Sep 25 09:38:47 CST 2017, time=2017-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247387, encodeId=d64624e3876e, content=谢谢分享.感觉收获很大!, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好!, createdTime=Sun Sep 24 23:52:46 CST 2017, time=2017-09-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247093, encodeId=215624e093fc, content=学习了.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=550d2008262, createdName=luominglian113, createdTime=Sun Sep 24 00:14:16 CST 2017, time=2017-09-24, status=1, ipAttribution=)]
    2017-09-24 明天会更好!

    谢谢分享.感觉收获很大!

    0

  10. 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topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200816/e4675a86ea694f12b82202b320dc2654/12f6b900498349e994ce8f516a584d6a.jpg, createdBy=09431951290, createdName=大爰, createdTime=Mon Sep 25 09:38:47 CST 2017, time=2017-09-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247387, encodeId=d64624e3876e, content=谢谢分享.感觉收获很大!, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160914/IMG57D82E721DB581755.jpg, createdBy=4fc81933929, createdName=明天会更好!, createdTime=Sun Sep 24 23:52:46 CST 2017, time=2017-09-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=247093, encodeId=215624e093fc, content=学习了.谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=550d2008262, createdName=luominglian113, createdTime=Sun Sep 24 00:14:16 CST 2017, time=2017-09-24, status=1, ipAttribution=)]
    2017-09-24 luominglian113

    学习了.谢谢分享

    0