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胚胎诊断助试管婴儿“逃脱”枫糖尿病遗传

2016-03-01 丁佳 罗国金 周红辉 中国科学报

枫糖尿病糖尿病试管婴儿
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29日从中国人民解放军总医院获悉，该医院日前成功接生了一对双胞胎男婴。他们是我国首例胚胎植入前遗传学诊断枫糖尿病基因健康双胎试管婴儿。这对新生儿的诞生，标志着我国对枫糖尿病这种单基因遗传疾病出生缺陷的产前诊断及干预迈上新台阶。 这对双胞胎的父母携带有常染色体隐性遗传枫糖尿病基因。其中，产妇今年38岁，之前经历了两次不良孕史，于是到解放军总医院妇产科寻求帮助。 经医院妇产科生殖医学中心教授姚元庆

29日从中国人民解放军总医院获悉，该医院日前成功接生了一对双胞胎男婴。他们是我国首例胚胎植入前遗传学诊断枫糖尿病基因健康双胎试管婴儿。这对新生儿的诞生，标志着我国对枫糖尿病这种单基因遗传疾病出生缺陷的产前诊断及干预迈上新台阶。

这对双胞胎的父母携带有常染色体隐性遗传枫糖尿病基因。其中，产妇今年38岁，之前经历了两次不良孕史，于是到解放军总医院妇产科寻求帮助。

经医院妇产科生殖医学中心教授姚元庆、产前诊断中心教授高志英团队讨论，决定对患者实施胚胎植入前遗传学诊断（PGD），并联合华大基因研究院进行检测，选择健康胚胎植入患者宫腔。2015年6月，患者成功受孕，最终成功诞下一对健康男婴。

姚元庆介绍说，枫糖尿病又称支链酮酸尿症，是一种遗传性支链氨基酸代谢障碍疾病。该病是常染色体隐性遗传的单基因病，新生儿发病率为1∶185000。该病具有严重的临床表现：出生后即发病，患者的尿、汗和耵聍中有特殊的枫糖臭味，婴儿期喂食困难、中枢神经受损和代谢性酸中毒，给家庭和社会造成沉重的负担。

据了解，目前人类已知的单基因病有7000多种，PGD是已知最有效的可阻断疾病垂直传播从而预防出生缺陷发生的技术，对减少出生缺陷、提高人口素质具有重要意义。

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    2018-06-29 1e145228m78(暂无匿称)

    学习了.谢谢作者分享!

    0

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    2016-07-04 ying_wu

    #试管婴#

    0

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    2016-03-03 ailian1202

    #胚胎#

    0

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    2016-03-02 sillywu

    看了半天没看到检测原理的只言片语，失败！

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=327994, encodeId=c17832e994c0, content=学习了.谢谢作者分享!, beContent=null, objectType=article, channel=null, level=null, likeNumber=110, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xJXLtMtt5B40XXuPjn9xn1rBhrM6fHLkX1hI86ZoWoPJkgDkZuJNKkBfBHOcRd1fAdezg7JlHNOokohdAp3WkI/0, createdBy=32c81964262, createdName=1e145228m78(暂无匿称), createdTime=Fri Jun 29 18:24:03 CST 2018, time=2018-06-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1813138, encodeId=9a8b1813138a8, content=<a href='/topic/show?id=1fdd91e56f7' target=_blank style='color:#2F92EE;'>#试管婴#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=91, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=91756, encryptionId=1fdd91e56f7, topicName=试管婴)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=11b4465, createdName=ying_wu, createdTime=Mon Jul 04 21:47:00 CST 2016, time=2016-07-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1315275, encodeId=d0cc13152e5a1, content=<a href='/topic/show?id=6fcc83e0554' target=_blank style='color:#2F92EE;'>#胚胎#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=83705, encryptionId=6fcc83e0554, topicName=胚胎)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=6393434, createdName=ailian1202, createdTime=Thu Mar 03 01:47:00 CST 2016, time=2016-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66744, encodeId=949a66e447a, content=看了半天没看到检测原理的只言片语，失败！, beContent=null, objectType=article, channel=null, level=null, likeNumber=126, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib260FNcic8ThYZTmbW36JHpvHcnIog7VbWIQjibo1kwuH9obXRJJtqHn1hYHHLG0DpIMIBVFPhBBpQOJWDk1rbib2Y/0, createdBy=d27274268, createdName=sillywu, createdTime=Wed Mar 02 07:03:00 CST 2016, time=2016-03-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66588, encodeId=912266588a2, content=厉害, beContent=null, objectType=article, channel=null, level=null, likeNumber=135, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160219/IMG56C6C68249B6F6895.jpg, createdBy=4a1b1689144, createdName=tiffany8083, createdTime=Tue Mar 01 16:09:00 CST 2016, time=2016-03-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66568, encodeId=265d6656862, content=lihai, beContent=null, objectType=article, channel=null, level=null, likeNumber=150, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160301/IMG56D53216887587291.jpg, createdBy=3c131694128, createdName=破风4392, createdTime=Tue Mar 01 15:12:00 CST 2016, time=2016-03-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66504, encodeId=d4f066504b9, content=这个厉害啊, beContent=null, objectType=article, channel=null, level=null, likeNumber=100, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160301/IMG56D53216887587291.jpg, createdBy=3c131694128, createdName=破风4392, createdTime=Tue Mar 01 14:08:00 CST 2016, time=2016-03-01, status=1, ipAttribution=)]
    2016-03-01 tiffany8083

    厉害

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=327994, encodeId=c17832e994c0, content=学习了.谢谢作者分享!, beContent=null, objectType=article, channel=null, level=null, likeNumber=110, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xJXLtMtt5B40XXuPjn9xn1rBhrM6fHLkX1hI86ZoWoPJkgDkZuJNKkBfBHOcRd1fAdezg7JlHNOokohdAp3WkI/0, createdBy=32c81964262, createdName=1e145228m78(暂无匿称), createdTime=Fri Jun 29 18:24:03 CST 2018, time=2018-06-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1813138, encodeId=9a8b1813138a8, content=<a href='/topic/show?id=1fdd91e56f7' target=_blank style='color:#2F92EE;'>#试管婴#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=91, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=91756, encryptionId=1fdd91e56f7, topicName=试管婴)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=11b4465, createdName=ying_wu, createdTime=Mon Jul 04 21:47:00 CST 2016, time=2016-07-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1315275, encodeId=d0cc13152e5a1, content=<a href='/topic/show?id=6fcc83e0554' target=_blank style='color:#2F92EE;'>#胚胎#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=83705, encryptionId=6fcc83e0554, topicName=胚胎)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=6393434, createdName=ailian1202, createdTime=Thu Mar 03 01:47:00 CST 2016, time=2016-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66744, encodeId=949a66e447a, content=看了半天没看到检测原理的只言片语，失败！, beContent=null, objectType=article, channel=null, level=null, likeNumber=126, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib260FNcic8ThYZTmbW36JHpvHcnIog7VbWIQjibo1kwuH9obXRJJtqHn1hYHHLG0DpIMIBVFPhBBpQOJWDk1rbib2Y/0, createdBy=d27274268, createdName=sillywu, createdTime=Wed Mar 02 07:03:00 CST 2016, time=2016-03-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66588, encodeId=912266588a2, content=厉害, beContent=null, objectType=article, channel=null, level=null, likeNumber=135, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160219/IMG56C6C68249B6F6895.jpg, createdBy=4a1b1689144, createdName=tiffany8083, createdTime=Tue Mar 01 16:09:00 CST 2016, time=2016-03-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66568, encodeId=265d6656862, content=lihai, beContent=null, objectType=article, channel=null, level=null, likeNumber=150, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160301/IMG56D53216887587291.jpg, createdBy=3c131694128, createdName=破风4392, createdTime=Tue Mar 01 15:12:00 CST 2016, time=2016-03-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66504, encodeId=d4f066504b9, content=这个厉害啊, beContent=null, objectType=article, channel=null, level=null, likeNumber=100, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160301/IMG56D53216887587291.jpg, createdBy=3c131694128, createdName=破风4392, createdTime=Tue Mar 01 14:08:00 CST 2016, time=2016-03-01, status=1, ipAttribution=)]
    2016-03-01 破风4392

    lihai

    0

  7. [GetPortalCommentsPageByObjectIdResponse(id=327994, encodeId=c17832e994c0, content=学习了.谢谢作者分享!, beContent=null, objectType=article, channel=null, level=null, likeNumber=110, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xJXLtMtt5B40XXuPjn9xn1rBhrM6fHLkX1hI86ZoWoPJkgDkZuJNKkBfBHOcRd1fAdezg7JlHNOokohdAp3WkI/0, createdBy=32c81964262, createdName=1e145228m78(暂无匿称), createdTime=Fri Jun 29 18:24:03 CST 2018, time=2018-06-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1813138, encodeId=9a8b1813138a8, content=<a href='/topic/show?id=1fdd91e56f7' target=_blank style='color:#2F92EE;'>#试管婴#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=91, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=91756, encryptionId=1fdd91e56f7, topicName=试管婴)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=11b4465, createdName=ying_wu, createdTime=Mon Jul 04 21:47:00 CST 2016, time=2016-07-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1315275, encodeId=d0cc13152e5a1, content=<a href='/topic/show?id=6fcc83e0554' target=_blank style='color:#2F92EE;'>#胚胎#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=83705, encryptionId=6fcc83e0554, topicName=胚胎)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=6393434, createdName=ailian1202, createdTime=Thu Mar 03 01:47:00 CST 2016, time=2016-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66744, encodeId=949a66e447a, content=看了半天没看到检测原理的只言片语，失败！, beContent=null, objectType=article, channel=null, level=null, likeNumber=126, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/oLAjfB7s1ib260FNcic8ThYZTmbW36JHpvHcnIog7VbWIQjibo1kwuH9obXRJJtqHn1hYHHLG0DpIMIBVFPhBBpQOJWDk1rbib2Y/0, createdBy=d27274268, createdName=sillywu, createdTime=Wed Mar 02 07:03:00 CST 2016, time=2016-03-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66588, encodeId=912266588a2, content=厉害, beContent=null, objectType=article, channel=null, level=null, likeNumber=135, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160219/IMG56C6C68249B6F6895.jpg, createdBy=4a1b1689144, createdName=tiffany8083, createdTime=Tue Mar 01 16:09:00 CST 2016, time=2016-03-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66568, encodeId=265d6656862, content=lihai, beContent=null, objectType=article, channel=null, level=null, likeNumber=150, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160301/IMG56D53216887587291.jpg, createdBy=3c131694128, createdName=破风4392, createdTime=Tue Mar 01 15:12:00 CST 2016, time=2016-03-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=66504, encodeId=d4f066504b9, content=这个厉害啊, beContent=null, objectType=article, channel=null, level=null, likeNumber=100, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160301/IMG56D53216887587291.jpg, createdBy=3c131694128, createdName=破风4392, createdTime=Tue Mar 01 14:08:00 CST 2016, time=2016-03-01, status=1, ipAttribution=)]
    2016-03-01 破风4392

    这个厉害啊

    0

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