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多重连接探针扩增技术在未培养羊水细胞染色体非整倍体快速诊断中的应用 被引量：3

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摘要 染色体数目或结构异常是导致严重致残、致畸出生缺陷的常见原因。染色体非整倍体异常是指染色体数目异常，包括三体综合征、单体综合征等，其中最常见的为13、18、21、x、Y染色体数目异常，占总的染色体数目异常的85％以,
作者 侯巧芳 楚艳 吴东 杨艳丽 张朝阳 廖世秀 张卫华
机构地区 河南省人民医院医学遗传研究所 河南省人民医院医学妇产科
出处 《中华妇产科杂志》 CAS CSCD 北大核心 2012年第7期543-545,共3页 Chinese Journal of Obstetrics and Gynecology
基金 国家自然科学基金（81170581）
关键词 染色体非整倍体异常 多重连接探针扩增技术 快速诊断 羊水细胞 染色体数目异常 应用 培养 三体综合征
分类号 R714.5 [医药卫生—妇产科学]
  • 相关文献

参考文献13

  • 1Shaffer LG, Bui TH. Molecular cytogenetic and rapid aneuploidydetection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet, 2007, 145:87-98.
  • 2Gekas J, van den Berg DG, Durand A, et al. Rapid testing karyotyping in Down's syndrome screening: cost- effectiveness and detection of clinically significant chromosome abnormalities. Eur J Hum Genet, 2011, 19:3-9.
  • 3范新萍,王立荣,肖白,刘敬忠,高淑英,张璘,张颖,顾莹.多重探针连接依赖式扩增快速检测染色体非整倍体异常[J].中华检验医学杂志,2008,31(1):77-81. 被引量：10
  • 4White S, Kalf M, Liu Q, et al. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet, 2002, 71:365-374.
  • 5Slater HR, Bruno DL, Ren H, et al. Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet, 2003, 40:907-912.
  • 6Van Opstal D, Boter M, de Jong D, et al. Rapid aneuploidy detection with muhiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. Eur J Hum Genet, 2009, 17:112-121.
  • 7Boomlans EM, Birnie E, Bilardo CM, et al. Karyotyping or rapid aneuploidy detection in prenatal diagnosis? The different views of users and providers of prenatal care. BJOG, 2009, 116: 1396- 1399.
  • 8Kooper AJ, Faas BH, Kater-Baats E, et al. Multiplex ligation- dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells. Prenat Diagn, 2008, 28 : 1004-1010.
  • 9唐少华,毛义建,陈向南,徐雪琴,谢番妮,吴昊,李焕铮,吕建新.应用多重连接依赖式探针扩增技术快速高通量诊断胎儿染色体非整倍体异常[J].中华医学遗传学杂志,2011,28(2):199-203. 被引量：5
  • 10Kooper AJ, Faas BH, Feuth T, et al. Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation- dependent probe amplification. J Mol Diagn, 2009, 11:17-24.

二级参考文献23

  • 1范新萍,肖白,丁洁,刘敬忠.孕妇外周血中游离DNA分级分离方法的应用研究[J].中华检验医学杂志,2006,29(3):233-235. 被引量：3
  • 2Simpson J,Elias S. Genetics in obstetrics and gynecology(妇产科遗传学).郎景和,译.3版.北京:人民卫生出版社,2005:3-24.
  • 3Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification. Nucleic Acids Res, 2002,30 : e57.
  • 4Gerdes T, Kirchhoff M, Bryndorf T. Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection). Electrophoresis, 2005,26:4327-4332.
  • 5Hochstenbach R, Meijer J, van de Brug J, et al. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn, 2005,25:1032-1039.
  • 6Lomax B,Tang S,Separovic E,et al.Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions.Am J Hum Genet,2000,66:1516-1521.
  • 7Brtmo DL,Burgess T,Ran H,et al.High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy.Am J Med Genet A,2006,140:2786-2793.
  • 8Northrop EL,Ren H,Bruno DL,et al.Detection of cryptic subteiomeric chromosome abnormalities and identification of anonymous Chromatin using a quantitative multiplex ligationdependent probe amplification (MLPA) assay.Hum Mutat,2005,26:477-486.
  • 9Fritz B,Hallermaun C,Olert J,et al.Cytogenetic analyses of culture failures by comparative genomic hybfidisation (CGH) -Reevaluation of chromosome aberration rates in early spontaneous abortions.Eur J Hum Genet,2001,9:539-547.
  • 10Stegmann AP,Jonker LM,Engelen JJ,et al.Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements.Eur J Med Genet,2008,51:93-105.

共引文献17

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引证文献3

中华妇产科杂志
2012年 第7期

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