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Clinica Chimica Acta：筛查厦门地区新生儿高苯丙氨酸血症及其突变分析

2019-12-02 MedSci MedSci原创

高苯丙氨酸血症
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在本研究中，研究人员评估了在中国厦门高苯丙氨酸血症(HPA)发病率和遗传特征。

在本研究中，研究人员评估了在中国厦门高苯丙氨酸血症(HPA)发病率和遗传特征。分析了2013年至2017年新生儿HPA的筛查数据，这些数据是通过荧光法和串联质谱法(MS/MS)获得。对疑似阳性的样本，使用MassArray技术、多重连接依赖探针扩增(MLPA)和Sanger测序进行进一步诊断。共筛查418831例新生儿，其中19例确诊为HPA患者，发病率为1:22 044。在这些HPA患者中，15例苯丙酮尿症检测呈阳性(PKU, 1:27922)， 4例四氢生物蝶呤缺乏症检测呈阳性(BH4D, 1:10 04 708)。19例患者38个等位基因共17个突变，检出率94.74%，包括13个PAH和4个PTS突变。其中，c.721 c > T, c.728 g > A, c.1197 > T, c.> 611 G和c.331C>T突变，c.259 c > T和c155A>G突变是厦门地区最主要的PAH和PTS突变。

因此，本研究系统地论证了厦门地区HPA的发病率和突变谱。这些信息将有助于HPA患者的遗传咨询、产前诊断和管理。将MS/MS技术与分子遗传诊断相结合，是厦门市未来新生儿HPA筛查的有效策略。

原始出处：

Xudong Wang，Ying He，Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China

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    2020-08-27 windight

    #CTA#

    0

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    2020-01-24 charleshjw

    #苯丙氨酸#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1849818, encodeId=22d91849818f1, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=21, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Thu Aug 27 19:12:00 CST 2020, time=2020-08-27, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1931953, encodeId=fdb61931953b1, content=<a href='/topic/show?id=b41b8e035f4' target=_blank style='color:#2F92EE;'>#苯丙氨酸#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=87035, encryptionId=b41b8e035f4, topicName=苯丙氨酸)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3bfe313, createdName=charleshjw, createdTime=Fri Jan 24 08:12:00 CST 2020, time=2020-01-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1660688, encodeId=f00a166068848, content=<a href='/topic/show?id=803c3e216cf' target=_blank style='color:#2F92EE;'>#厦门#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37216, encryptionId=803c3e216cf, topicName=厦门)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=552a25130440, createdName=xqptu, createdTime=Sat May 16 01:12:00 CST 2020, time=2020-05-16, status=1, ipAttribution=)]
    2020-05-16 xqptu

    #厦门#

    0