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Clinica Chimica Acta：通过高分辨熔融分析检测出严重高甘油三酯血症患者的LPL和GPIHBP1基因的遗传变异？

2020-03-01 MedSci MedSci原创

高分辨熔融分析高甘油三酯血症患者
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在严重高甘油三酯血症患者中，发现脂蛋白脂肪酶(LPL)和糖基磷脂酰肌醇锚定的高密度脂蛋白结合蛋白1 (GPIHBP1)的致病性变异。我们的目的是优化高分辨率熔解(HRM)检测这些基因中功能变异的能力。 研究人员对116例严重高甘油三酯血症患者进行了研究。将桑格测序是参考方法，优化HRM检测以扫描LPL和GPIHBP1中的外显子和连接。对5例患者包括1例家族性乳糜氨酸综合征(FCS)患者，进行

在严重高甘油三酯血症患者中，发现脂蛋白脂肪酶(LPL)和糖基磷脂酰肌醇锚定的高密度脂蛋白结合蛋白1 (GPIHBP1)的致病性变异。我们的目的是优化高分辨率熔解(HRM)检测这些基因中功能变异的能力。

研究人员对116例严重高甘油三酯血症患者进行了研究。将桑格测序是参考方法，优化HRM检测以扫描LPL和GPIHBP1中的外显子和连接。对5例患者包括1例家族性乳糜氨酸综合征(FCS)患者，进行了测序(NGS)。

研究结果显示，在LPL中识别了15个不同的变体，在GPIHBP1中识别了6个不同的变体。包括LCS中罕见的过早终止密码子（p.Trp421 *）和FCS患者的两种LPL致病性变体（p.His80Arg + p.Gly215Glu）。 具有多个功能变异等位基因与年轻时胰腺炎和基线较高的甘油三酸酯相关。

研究结果表明，我们的HRM分析检测到功能基因变异体的存在，已通过Sanger和NGS测序证实。 多个功能变异等位基因的存在与临床特征的差异有关。 因此，这些测定法代表了一种可靠，具有成本效益的工具，可用于补充用于基因扫描的NGS方法。。

原始出处：

María José Ariza，Carmen Pérez-López，Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis

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    2020-05-25 日月

    #GPIHBP1#

    0

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    2020-08-26 windight

    #CTA#

    0

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    2020-12-06 lsndxfj

    #高分辨#

    0

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    2020-09-16 flyingeagle85

    #高甘油三酯#

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=2088943, encodeId=cfff208894387, content=<a href='/topic/show?id=cbe6820410' target=_blank style='color:#2F92EE;'>#GPIHBP1#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8204, encryptionId=cbe6820410, topicName=GPIHBP1)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4a4d285, createdName=日月, createdTime=Mon May 25 17:05:00 CST 2020, time=2020-05-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849866, encodeId=897c18498662b, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Wed Aug 26 06:05:00 CST 2020, time=2020-08-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1997617, encodeId=0653199e617aa, content=<a href='/topic/show?id=e06810222253' target=_blank style='color:#2F92EE;'>#高分辨#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102222, encryptionId=e06810222253, topicName=高分辨)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=acc3210, createdName=lsndxfj, createdTime=Sun Dec 06 15:05:00 CST 2020, time=2020-12-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1654731, encodeId=2aac1654e31cc, content=<a href='/topic/show?id=edc610251468' target=_blank style='color:#2F92EE;'>#高甘油三酯#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102514, encryptionId=edc610251468, topicName=高甘油三酯)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f5a424532179, createdName=flyingeagle85, createdTime=Wed Sep 16 15:05:00 CST 2020, time=2020-09-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2011741, encodeId=b1e42011e4136, content=<a href='/topic/show?id=85f61103863' target=_blank style='color:#2F92EE;'>#LPL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=11038, encryptionId=85f61103863, topicName=LPL)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=373b263, createdName=lisa438, createdTime=Sat Jun 13 12:05:00 CST 2020, time=2020-06-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342659, encodeId=74b713426590c, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38102, encryptionId=34cb381023e, topicName=变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1377202, encodeId=9cac13e72024e, content=<a href='/topic/show?id=007d9506920' target=_blank style='color:#2F92EE;'>#遗传变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95069, encryptionId=007d9506920, topicName=遗传变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=73a3403, createdName=weihongyv, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1486779, encodeId=eda61486e798e, content=<a href='/topic/show?id=8ca1102515ec' target=_blank style='color:#2F92EE;'>#高甘油三酯血症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102515, encryptionId=8ca1102515ec, topicName=高甘油三酯血症)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=91bf8208819, createdName=bioon4, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=)]
    2020-06-13 lisa438

    #LPL#

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=2088943, encodeId=cfff208894387, content=<a href='/topic/show?id=cbe6820410' target=_blank style='color:#2F92EE;'>#GPIHBP1#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8204, encryptionId=cbe6820410, topicName=GPIHBP1)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4a4d285, createdName=日月, createdTime=Mon May 25 17:05:00 CST 2020, time=2020-05-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849866, encodeId=897c18498662b, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Wed Aug 26 06:05:00 CST 2020, time=2020-08-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1997617, encodeId=0653199e617aa, content=<a href='/topic/show?id=e06810222253' target=_blank style='color:#2F92EE;'>#高分辨#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102222, encryptionId=e06810222253, topicName=高分辨)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=acc3210, createdName=lsndxfj, createdTime=Sun Dec 06 15:05:00 CST 2020, time=2020-12-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1654731, encodeId=2aac1654e31cc, content=<a href='/topic/show?id=edc610251468' target=_blank style='color:#2F92EE;'>#高甘油三酯#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102514, encryptionId=edc610251468, topicName=高甘油三酯)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f5a424532179, createdName=flyingeagle85, createdTime=Wed Sep 16 15:05:00 CST 2020, time=2020-09-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2011741, encodeId=b1e42011e4136, content=<a href='/topic/show?id=85f61103863' target=_blank style='color:#2F92EE;'>#LPL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=11038, encryptionId=85f61103863, topicName=LPL)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=373b263, createdName=lisa438, createdTime=Sat Jun 13 12:05:00 CST 2020, time=2020-06-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342659, encodeId=74b713426590c, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38102, encryptionId=34cb381023e, topicName=变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1377202, encodeId=9cac13e72024e, content=<a href='/topic/show?id=007d9506920' target=_blank style='color:#2F92EE;'>#遗传变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95069, encryptionId=007d9506920, topicName=遗传变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=73a3403, createdName=weihongyv, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1486779, encodeId=eda61486e798e, content=<a href='/topic/show?id=8ca1102515ec' target=_blank style='color:#2F92EE;'>#高甘油三酯血症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102515, encryptionId=8ca1102515ec, topicName=高甘油三酯血症)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=91bf8208819, createdName=bioon4, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=)]
    2020-03-03 12498dabm77暂无昵称

    #变异#

    0

  7. [GetPortalCommentsPageByObjectIdResponse(id=2088943, encodeId=cfff208894387, content=<a href='/topic/show?id=cbe6820410' target=_blank style='color:#2F92EE;'>#GPIHBP1#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8204, encryptionId=cbe6820410, topicName=GPIHBP1)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4a4d285, createdName=日月, createdTime=Mon May 25 17:05:00 CST 2020, time=2020-05-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849866, encodeId=897c18498662b, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Wed Aug 26 06:05:00 CST 2020, time=2020-08-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1997617, encodeId=0653199e617aa, content=<a href='/topic/show?id=e06810222253' target=_blank style='color:#2F92EE;'>#高分辨#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102222, encryptionId=e06810222253, topicName=高分辨)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=acc3210, createdName=lsndxfj, createdTime=Sun Dec 06 15:05:00 CST 2020, time=2020-12-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1654731, encodeId=2aac1654e31cc, content=<a href='/topic/show?id=edc610251468' target=_blank style='color:#2F92EE;'>#高甘油三酯#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102514, encryptionId=edc610251468, topicName=高甘油三酯)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f5a424532179, createdName=flyingeagle85, createdTime=Wed Sep 16 15:05:00 CST 2020, time=2020-09-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2011741, encodeId=b1e42011e4136, content=<a href='/topic/show?id=85f61103863' target=_blank style='color:#2F92EE;'>#LPL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=11038, encryptionId=85f61103863, topicName=LPL)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=373b263, createdName=lisa438, createdTime=Sat Jun 13 12:05:00 CST 2020, time=2020-06-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342659, encodeId=74b713426590c, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38102, encryptionId=34cb381023e, topicName=变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1377202, encodeId=9cac13e72024e, content=<a href='/topic/show?id=007d9506920' target=_blank style='color:#2F92EE;'>#遗传变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95069, encryptionId=007d9506920, topicName=遗传变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=73a3403, createdName=weihongyv, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1486779, encodeId=eda61486e798e, content=<a href='/topic/show?id=8ca1102515ec' target=_blank style='color:#2F92EE;'>#高甘油三酯血症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102515, encryptionId=8ca1102515ec, topicName=高甘油三酯血症)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=91bf8208819, createdName=bioon4, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=)]
    2020-03-03 weihongyv

    #遗传变异#

    0

  8. [GetPortalCommentsPageByObjectIdResponse(id=2088943, encodeId=cfff208894387, content=<a href='/topic/show?id=cbe6820410' target=_blank style='color:#2F92EE;'>#GPIHBP1#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8204, encryptionId=cbe6820410, topicName=GPIHBP1)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4a4d285, createdName=日月, createdTime=Mon May 25 17:05:00 CST 2020, time=2020-05-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849866, encodeId=897c18498662b, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Wed Aug 26 06:05:00 CST 2020, time=2020-08-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1997617, encodeId=0653199e617aa, content=<a href='/topic/show?id=e06810222253' target=_blank style='color:#2F92EE;'>#高分辨#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=35, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102222, encryptionId=e06810222253, topicName=高分辨)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=acc3210, createdName=lsndxfj, createdTime=Sun Dec 06 15:05:00 CST 2020, time=2020-12-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1654731, encodeId=2aac1654e31cc, content=<a href='/topic/show?id=edc610251468' target=_blank style='color:#2F92EE;'>#高甘油三酯#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102514, encryptionId=edc610251468, topicName=高甘油三酯)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f5a424532179, createdName=flyingeagle85, createdTime=Wed Sep 16 15:05:00 CST 2020, time=2020-09-16, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2011741, encodeId=b1e42011e4136, content=<a href='/topic/show?id=85f61103863' target=_blank style='color:#2F92EE;'>#LPL#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=31, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=11038, encryptionId=85f61103863, topicName=LPL)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=373b263, createdName=lisa438, createdTime=Sat Jun 13 12:05:00 CST 2020, time=2020-06-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1342659, encodeId=74b713426590c, content=<a href='/topic/show?id=34cb381023e' target=_blank style='color:#2F92EE;'>#变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=38102, encryptionId=34cb381023e, topicName=变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=78c32500188, createdName=12498dabm77暂无昵称, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1377202, encodeId=9cac13e72024e, content=<a href='/topic/show?id=007d9506920' target=_blank style='color:#2F92EE;'>#遗传变异#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95069, encryptionId=007d9506920, topicName=遗传变异)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=73a3403, createdName=weihongyv, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1486779, encodeId=eda61486e798e, content=<a href='/topic/show?id=8ca1102515ec' target=_blank style='color:#2F92EE;'>#高甘油三酯血症#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=102515, encryptionId=8ca1102515ec, topicName=高甘油三酯血症)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=91bf8208819, createdName=bioon4, createdTime=Tue Mar 03 12:05:00 CST 2020, time=2020-03-03, status=1, ipAttribution=)]
    2020-03-03 bioon4

    #高甘油三酯血症#

    0