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软骨发育不全的产前诊断进展 被引量：2

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摘要 软骨发育不全是最常见的遗传性侏儒,作为一种严重的遗传性疾病,该病发生后难以治疗。近年来,由于产前诊断方法及分子生物学诊断技术的发展,软骨发育不全的产前基因诊断成为可能。本文就该病的产前诊断技术尤其是基因诊断这方面进展进行综述。
作者 朱泓 杨祖菁
机构地区 上海交通大学医学院附属新华医院妇产科
出处 《海南医学》 CAS 2010年第9期118-121,共4页 Hainan Medical Journal
关键词 软骨发育不全 胎儿 基因诊断
分类号 R681.1 [医药卫生—骨科学]
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参考文献27

  • 1Muenke M,Schell U.Fibroblast-growth-factor receptor mutations in human skeletal disorders[J].Trends Genet,1995,1(1):308-313.
  • 2Mulvihill JJ.Craniofacial syndromes:no such thing as a single gene disease[J].Nat Genet,1995,9:101-103.
  • 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.
  • 5梁娟,王艳萍,缪蕾,朱军,吴艳乔.中国围产儿软骨发育不全特征分析[J].现代中西医结合杂志,2000,9(16):1523-1524. 被引量：6
  • 6Aitken 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.
  • 7Tiemann 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.
  • 8Shiang 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.
  • 9Rousseau 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.
  • 10Vajo Z,Francomano CA,Wlkin DJ.The molecular and genetic basis of fibroblast growth factor receptor 3 disorders[J].EndocrRev,2000,21(1):23-39.

二级参考文献25

  • 1游泽山,曾瑞萍,刘奇志,陈健生,胡彬.早期羊膜腔穿刺用于α-地中海贫血产前诊断的初步研究[J].中华围产医学杂志,1998,1(2):115-116. 被引量：1
  • 2Shiang 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
  • 3Rousseau F,Bonaventure J,Legeai M,et al.Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia[J].Nature,1994,371(6494):252-254
  • 4Aitken R,Baker M,Sawyer D.Oxidative stress in the male germ line and its role in the aetiology of male infertility and genetic disease[J].Reprod Biomed Online,2003,7(1):65-70
  • 5Tiemann I,Navidi W,Grewal R,et al.The observed human sperm mutation frequency can not explain the achondroplasia paternal age effect[J].Proc Natl Acad Sci USA,2002,99(23):14952-14957
  • 6Bérénice D,Romain F,Brigitte Viville,et al.Prenatal sonographic diagnosis of skeletal dysplasias.A report of 47 cases[J]. Annales de Génétique,2000,43(3-4):163-169
  • 7Latini G,Felice D,Parrini S,et al.Polyhydramnios:a predictor of severe growth impairment in achondroplasia[J].J Pediatr,2002,141(2):274-276
  • 8Krakow D,Williams J,Poehl M,et al.Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias[J].Ultrasound Obstet Gynecol,2003,21(5):467-472
  • 9Cheema J,Grissom L,Harcke H.Radiographic characteristics of lower-extremity bowing in children[J].Radiographics,2003,23(4):871-880
  • 10Antoniadi T,Yapijakis C,Kaminopetros P,et al.A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis[J].Prenat Diagn,2002,22(5):425-429

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二级引证文献9

海南医学
2010年 第9期

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