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CLIN CHEM：强直性营养不良1型植入前遗传学诊断

2017-06-05 MedSci MedSci原创

植入前遗传学诊断强直性营养不良
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对强直性营养不良型1型（DM1）的植入前遗传学诊断（PGD）目前通过使用常规PCR检测非扩张性肌营养不良肌群肌蛋白激酶（DMPK）等位基因或三联体引物PCR检测CTG扩增等位基因，并联合连锁微卫星分析以提高诊断准确度。本研究旨在DM1 PGD的过程中简化识别和选择信息链接标记物。

近日，国际杂志CLINICAL CHEMISTRY上在线发表一项关于应用单管Dodecaplex PCR与DMPK CTG重复序列相关的多态微卫星标记为强直性营养不良1型进行植入前遗传学诊断的研究。

对强直性营养不良1型（DM1）的植入前遗传学诊断（PGD）目前通过使用常规PCR检测非扩张性肌营养不良肌群肌蛋白激酶（DMPK）等位基因或三联体引物PCR检测CTG扩增等位基因，并联合连锁微卫星分析以提高诊断准确度。本研究旨在DM1 PGD的过程中简化识别和选择信息链接标记物。

研究人员通过进行计算机检索鉴定DMPK基因侧翼1-1.5Mb内的所有标记。在单管多重PCR反应板中，选择并优化了五种先前已知的（D19S559，APOC2，D19S543，D19S112和BV209569）和具有潜在高杂合度值和多态性信息含量的7种新型（DM45050，DM45178，DM45209，DM45958，DM46513，DM46892和DM47004.1）标志物。

通过检测新加坡国立大学医院出生的中国和高加索人群的184份DNA样本（91名来自新加坡国立大学医院出生的中国婴儿的不相关的匿名脐带血和人类变异板HD100CAU的93位高加索人群的DNA样本）证实了所有标记具有高多态性指数（多态性信息含量> 0.5），观察到的杂合度值范围为0.62-0.93。所有个体对于至少6个标记物是杂合的，其中99.5％的个体在DMPK CTG重复的任一侧上至少2个标记杂合。在42个单细胞和12个全基因组扩增的单细胞上成功验证了dodecaplex标记物。

研究表明，DM1多重PCR反应板可作为适用于DM1 PGD检测的独立的基于连锁的测定法，也可以作为DMPK CTG重复扩增-突变检测方法的补充。

原始出处：

Mulias Lian, Mingjue Zhao, Caroline G. Lee. et.al. Single-Tube Dodecaplex PCR Panel of Polymorphic Microsatellite Markers Closely Linked to the DMPK CTG Repeat for Preimplantation Genetic Diagnosis of Myotonic Dystrophy Type 1. Clinical Chemistry Jun 2017, 63 (6).

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    2017-12-08 李研东

    #遗传学#

    0

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    2017-08-11 zywlvao

    #强直性#

    0

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    2017-11-18 lilili1104

    #遗传学诊断#

    0

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    2017-06-07 1e10c84am36(暂无匿称)

    文章很好，拜读了

    0

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    2017-06-06 jiyangfei

    #植入#

    0

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    2017-06-06 1e10c84am36(暂无匿称)

    文章很好，拜读了

    0

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    2017-06-05 1e10c84am36(暂无匿称)

    文章很好，学习受益

    0

  8. [GetPortalCommentsPageByObjectIdResponse(id=1843920, encodeId=83d2184392034, content=<a href='/topic/show?id=05e29508559' target=_blank style='color:#2F92EE;'>#遗传学#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95085, encryptionId=05e29508559, topicName=遗传学)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=6e7948, createdName=李研东, createdTime=Fri Dec 08 21:28:00 CST 2017, time=2017-12-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1946827, encodeId=61b1194682e63, content=<a href='/topic/show?id=9a3950183e9' target=_blank style='color:#2F92EE;'>#强直性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=50183, encryptionId=9a3950183e9, topicName=强直性)], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTKeia4TJeMGvEH3wKKIBNjuHuIic1HDNOB10j4tCd3nbylxkxm6HSMfEaKkSu6OZOak4uZv7UVicsWEg/132, createdBy=bc9a2500116, createdName=zywlvao, createdTime=Fri Aug 11 20:28:00 CST 2017, time=2017-08-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1972110, encodeId=8e5019e2110ad, content=<a href='/topic/show?id=3cca9509972' target=_blank style='color:#2F92EE;'>#遗传学诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95099, encryptionId=3cca9509972, topicName=遗传学诊断)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=afdf491, createdName=lilili1104, createdTime=Sat Nov 18 08:28:00 CST 2017, time=2017-11-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=207640, encodeId=1a0020e640ce, content=文章很好，拜读了, 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/jW482SpianMayicTRbRZ5RzdAIB7UwTkHt6fQkBP8ictliaXtc5gCUmYdAW1sAETC2nhO3q6YjRHkUibyOCtP8ibmXNObTyd63A076/0, createdBy=d4111948983, createdName=1e10c84am36(暂无匿称), createdTime=Wed Jun 07 09:01:10 CST 2017, time=2017-06-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1520367, encodeId=352e152036e7a, content=<a href='/topic/show?id=7a736264553' target=_blank style='color:#2F92EE;'>#植入#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=23, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=62645, encryptionId=7a736264553, topicName=植入)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=832411313664, createdName=jiyangfei, createdTime=Tue Jun 06 23:28:00 CST 2017, time=2017-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=207324, encodeId=ddbe20e324e7, content=文章很好，拜读了, 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/jW482SpianMayicTRbRZ5RzdAIB7UwTkHt6fQkBP8ictliaXtc5gCUmYdAW1sAETC2nhO3q6YjRHkUibyOCtP8ibmXNObTyd63A076/0, createdBy=d4111948983, createdName=1e10c84am36(暂无匿称), createdTime=Tue Jun 06 12:52:00 CST 2017, time=2017-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=206773, encodeId=acf8206e73d2, content=文章很好，学习受益, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, 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=Mon Jun 05 09:23:38 CST 2017, time=2017-06-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=206757, encodeId=b56f206e570b, content=学习了很多的事情, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NcXNhUvfhzd2dD8SUAwqrufRiaKMGaaBScoAzEicJJibuu3wCIWWQxoLgS2UOBx1vsPe3faZtAiatc0pTWlS6868zZH/0, createdBy=0a231960988, createdName=胖红, createdTime=Mon Jun 05 08:35:14 CST 2017, time=2017-06-05, status=1, ipAttribution=)]
    2017-06-05 胖红

    学习了很多的事情

    0