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基因分型：HCM临床诊治及预后的堵注？

2011-04-09 MedSci原创 MedSci原创

HCM基因分型
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正方观点：基因分型为HCM的诊治和预后提供有力依据刘文玲  刘雯  北京大学人民医院基因检测可确定发病风险    临床上，在特异性临床表现出现前我们几乎不能预测个人以后的发病风险。HCM的基因检测使对发病风险进行预测成为可能，尤其是针对家族性疾病，因为预计有 60%的先证者和一半的一级亲属都携带基因突变。通过检测基因型我们可以不依靠临床表现而在早期

正方观点：基因分型为HCM的诊治和预后提供有力依据刘文玲  刘雯  北京大学人民医院基因检测可确定发病风险    临床上，在特异性临床表现出现前我们几乎不能预测个人以后的发病风险。HCM的基因检测使对发病风险进行预测成为可能，尤其是针对家族性疾病，因为预计有 60%的先证者和一半的一级亲属都携带基因突变。通过检测基因型我们可以不依靠临床表现而在早期就能了解亲属的患病风险，从而预测疾病的发生。简单地说，那些没有遗传到这些病理性突变的家庭成员，不管是患者亲属或后代都没有患HCM的可能。如果携带这种基因突变，就有患HCM的可能。那么，我们只需对病理性基因突变携带者采取临床干预，因为只有他们有患病的风险。那些没有病理性基因突变的家庭成员及其他们的后代都没有患该病的风险，他们不需要进行一系列的临床评估或生活限制。图1为HCM患者及其家属基因检测流程。对于携带病理性突变基因的成员，基因检测亦可用于计划生育，通过基因诊断选择没有基因突变的胚胎。 基因检测帮助明确模棱两可的诊断    临床上经常有患者遇到这样的情况，患者有

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    2011-07-09 ms5236388012055669

    #临床诊治#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=2005576, encodeId=c7a120055e6ba, content=<a href='/topic/show?id=fcef2302437' target=_blank style='color:#2F92EE;'>#临床诊治#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=23024, encryptionId=fcef2302437, topicName=临床诊治)], attachment=null, authenticateStatus=null, createdAvatar=https://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTJnkE6UvGFfMS41qV0RicWvVTTeLMicqibeZH5GqO4YhNicyl1Y9jFhylIUBn9ntPYy9jhk5hrfic5cRYw/132, createdBy=5f822500020, createdName=ms5236388012055669, createdTime=Sat Jul 09 07:17:00 CST 2011, time=2011-07-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1478108, encodeId=0cbb14e8108c0, content=<a href='/topic/show?id=f51a8556cc' target=_blank style='color:#2F92EE;'>#HCM#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8556, encryptionId=f51a8556cc, topicName=HCM)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8e886, createdName=仁者大医, createdTime=Mon Apr 11 14:17:00 CST 2011, time=2011-04-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1486233, encodeId=113b148623396, content=<a href='/topic/show?id=084a41694c4' target=_blank style='color:#2F92EE;'>#基因分型#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=47, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=41694, encryptionId=084a41694c4, topicName=基因分型)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b5c38095280, createdName=LShY0906_98743846, createdTime=Mon Apr 11 14:17:00 CST 2011, time=2011-04-11, status=1, ipAttribution=)]
    2011-04-11 仁者大医

    #HCM#

    0

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    2011-04-11 LShY0906_98743846

    #基因分型#

    0