Clinica Chimica Acta:利用全外显子组测序对中国骨发育不良患者进行产前诊断

2020-06-24 MedSci原创 MedSci原创

目前,在超声检查发现的胎儿结构畸形中,骨骼发育不良占近10%。这种临床异质性的遗传异常包括至少461种具有极端临床、表型和遗传异质性的遗传骨骼疾病,增加了准确诊断的复杂性。

目前,在超声检查发现的胎儿结构畸形中,骨骼发育不良占近10%。这种临床异质性的遗传异常包括至少461种具有极端临床、表型和遗传异质性的遗传骨骼疾病,增加了准确诊断的复杂性。研究已将全外显子组测序(WES)用于骨骼发育异常的产前分子诊断,但相关数据尚不充分。

超声检测疑似骨发育不良胎儿脐带血或羊膜细胞DNA,由WES进行分析。取阳性胎儿父母血样,采用Sanger测序共分离分析。

最终在6/8(75%)的病例中开展分子诊断,发现包括3个基因(FGFR3、COL2A1和COL1A2)中的5个新的致病变化、1个双等位基因缺失的先发基因(Lamin B受体(LBR)),3个新的变异。而从测序结果来看,所有胎儿都没有可检测的拷贝数变异(CNV)。

研究表明,WES是一种有效的方法,产前诊断胎儿怀疑骨骼异常,有助于父母遗传咨询和怀孕管理

原始出处:

Jia Tang,Chenglong Zhou,Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China

 

 

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    2021-03-18 仁医06
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encodeId=50ce156e9998e, content=<a href='/topic/show?id=7a833e94079' target=_blank style='color:#2F92EE;'>#发育不良#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37940, encryptionId=7a833e94079, topicName=发育不良)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30b515313716, createdName=villahu, createdTime=Fri Jun 26 13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1619069, encodeId=1f7f1619069b6, content=<a href='/topic/show?id=492a42862bd' target=_blank style='color:#2F92EE;'>#外显子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42862, encryptionId=492a42862bd, topicName=外显子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a12645, createdName=docwu2019, createdTime=Fri Jun 26 13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=)]
  5. [GetPortalCommentsPageByObjectIdResponse(id=1684260, encodeId=95f8168426013, content=<a href='/topic/show?id=a2a842865e7' target=_blank style='color:#2F92EE;'>#外显子组#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42865, encryptionId=a2a842865e7, topicName=外显子组)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f5dc28064977, createdName=achengzhao, createdTime=Sat Jan 30 18:26:34 CST 2021, time=2021-01-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849954, encodeId=b1ba18499542c, 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=null, createdBy=55683, createdName=仁医06, createdTime=Thu Mar 18 11:26:34 CST 2021, time=2021-03-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1642105, encodeId=ddbb164210591, content=<a href='/topic/show?id=cd7b29410cf' target=_blank style='color:#2F92EE;'>#全外显子组测序#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=33, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=29410, encryptionId=cd7b29410cf, topicName=全外显子组测序)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=db4222850934, createdName=haouestc, createdTime=Sat Aug 29 11:26:34 CST 2020, time=2020-08-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1689727, encodeId=7b621689e275b, content=<a href='/topic/show?id=4bf4428668c' target=_blank style='color:#2F92EE;'>#外显子组测序#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, 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beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24436, encryptionId=b3fb24436e8, topicName=产前诊断)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=02c72243675, createdName=bioon2, createdTime=Fri Jun 26 13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1502590, encodeId=f7d41502590ee, content=<a href='/topic/show?id=ef4b2441971' target=_blank style='color:#2F92EE;'>#产前#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24419, encryptionId=ef4b2441971, topicName=产前)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b49a9545081, createdName=qilu_qi, createdTime=Fri Jun 26 13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1567999, encodeId=50ce156e9998e, content=<a href='/topic/show?id=7a833e94079' target=_blank style='color:#2F92EE;'>#发育不良#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37940, encryptionId=7a833e94079, topicName=发育不良)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30b515313716, createdName=villahu, createdTime=Fri Jun 26 13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1619069, encodeId=1f7f1619069b6, content=<a href='/topic/show?id=492a42862bd' target=_blank style='color:#2F92EE;'>#外显子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42862, encryptionId=492a42862bd, topicName=外显子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a12645, createdName=docwu2019, createdTime=Fri Jun 26 13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=)]
    2020-06-26 neurowu
  6. [GetPortalCommentsPageByObjectIdResponse(id=1684260, encodeId=95f8168426013, content=<a href='/topic/show?id=a2a842865e7' target=_blank style='color:#2F92EE;'>#外显子组#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42865, encryptionId=a2a842865e7, topicName=外显子组)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f5dc28064977, createdName=achengzhao, createdTime=Sat Jan 30 18:26:34 CST 2021, time=2021-01-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849954, encodeId=b1ba18499542c, 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=null, 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13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=)]
  7. [GetPortalCommentsPageByObjectIdResponse(id=1684260, encodeId=95f8168426013, content=<a href='/topic/show?id=a2a842865e7' target=_blank style='color:#2F92EE;'>#外显子组#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42865, encryptionId=a2a842865e7, topicName=外显子组)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f5dc28064977, createdName=achengzhao, createdTime=Sat Jan 30 18:26:34 CST 2021, time=2021-01-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1849954, encodeId=b1ba18499542c, 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=null, 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beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24436, encryptionId=b3fb24436e8, topicName=产前诊断)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=02c72243675, createdName=bioon2, createdTime=Fri Jun 26 13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1502590, encodeId=f7d41502590ee, content=<a href='/topic/show?id=ef4b2441971' target=_blank style='color:#2F92EE;'>#产前#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24419, encryptionId=ef4b2441971, topicName=产前)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b49a9545081, createdName=qilu_qi, createdTime=Fri Jun 26 13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1567999, encodeId=50ce156e9998e, content=<a href='/topic/show?id=7a833e94079' target=_blank style='color:#2F92EE;'>#发育不良#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=37940, encryptionId=7a833e94079, topicName=发育不良)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30b515313716, createdName=villahu, createdTime=Fri Jun 26 13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1619069, encodeId=1f7f1619069b6, content=<a href='/topic/show?id=492a42862bd' target=_blank style='color:#2F92EE;'>#外显子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42862, encryptionId=492a42862bd, topicName=外显子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a12645, createdName=docwu2019, createdTime=Fri Jun 26 13:26:34 CST 2020, time=2020-06-26, status=1, ipAttribution=)]
    2020-06-26 qilu_qi
  8. 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  9. 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