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先天性软骨发育不全的产前诊断 被引量：4

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摘要 先天性软骨发育不全 (ACH)是一种严重的遗传性侏儒症。患儿出生后一般在儿科或骨科就诊 ,因发病率低而往往不引起妇产科医生的重视。此病尚无有效的治疗方法 ,在产前进行明确诊断后终止妊娠是目前减少此病发生的唯一方法。随着基因诊断技术的发展 。
作者 胡章雪 李力
机构地区 第三军医大学大坪医院野战外科研究所妇产科
出处 《现代妇产科进展》 CSCD 2004年第5期377-379,共3页 Progress in Obstetrics and Gynecology
关键词 软骨发育不全 产前诊断 基因诊断
分类号 R681.1 [医药卫生—骨科学]
  • 相关文献

参考文献18

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二级参考文献28

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共引文献41

同被引文献36

  • 1Muenke M,Schell U.Fibroblast-growth-factor receptor mutations in human skeletal disorders[J].Trends Genet,1995,1(1):308-313.
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  • 3Rousseau F,Bonaventure J,Legeai-Mallet L,et al.Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia[J].Nature,1994,371:252-254.
  • 4Henderson JE,Naski MC,Aarts M,et al.A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis[J].Bone Miner Res,2007,15(1):155-165.
  • 5Aitken R,Baker M,Sawyer.Oxidative stress in the male germ line and its role in the aetiology of male infertility and genetic disease[J].Report Biomed Online,2003,7(1):65-70.
  • 6Tiemann I,Navidi W,Grewal R,et al.The observed human sperm mutation frequency can not explain the achondroplasia paternal age effect[J].Proc Nail Acad Sci USA,2007,99 (23):14 952-14 957.
  • 7Shiang R,Thompson LM,Zhu YZ,et al.Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism,achondroplasia[J].Cell,1994,78(2):335-342.
  • 8Rousseau F,Bonaventure J,Legeai-Mallet L,et al.Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia[J].Nature,1994,371(6 494):252-254.
  • 9Vajo Z,Francomano CA,Wlkin DJ.The molecular and genetic basis of fibroblast growth factor receptor 3 disorders[J].EndocrRev,2000,21(1):23-39.
  • 10Monsonego-Organ E,Adar R,Feferman T,et al.The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation[J].Mol Cell Biol,2007,20(2):516-522.

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现代妇产科进展
2004年 第5期

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