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应用染色体芯片分析技术诊断Smith-Magenis综合征 被引量：6

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摘要 随着基因组学研究技术的快速发展，人们发现基因组中存在大量的拷贝数变异（copy number variations，CNVs）染色体片段缺夫或重复可导致剂量敏感性基因拷贝数发生变化从而引起各种疾病表型，利用高分辨率基因组芯片技术已发现许多疾病与某些关键基因座位的CNVs相关。
作者 何俊英 何鑫 王丽丽 余永国
机构地区 浙江省衢州市幼保健院 上海市儿科医学研究所内分泌遗传科
出处 《中华检验医学杂志》 CAS CSCD 北大核心 2015年第4期281-282,共2页 Chinese Journal of Laboratory Medicine
关键词 染色体片段 技术诊断 芯片分析 综合征 基因拷贝数 应用 基因组学 疾病表型
分类号 R440 [医药卫生—诊断学] R596.1 [医药卫生—内科学]
  • 相关文献

参考文献6

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二级参考文献29

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共引文献13

同被引文献30

  • 1潘小英,吴菁,傅文婷,郭莉,谢珊,郭浩,张小庄.羊水细胞原位培养染色体制备技术在产前诊断上的应用[J].中国优生与遗传杂志,2006,14(5):43-44. 被引量：17
  • 2Ghanem N, Uring-Lambert B, Abbal M, et al. Polymorphism of MHC class Ⅲ genes : definition of restriction fragment linkagegroups and evidence for frequent deletions and duplications [J]. Hum Genet, 1988, 79(3) : 209-218.
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  • 5Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome [ J ]. Nature, 2006, 23, 444 (7118) : 444-454. DOI: 10. 1038/nature05329.
  • 6Iafrate AJ, Feuk L, Rivera MN, et al. Detection of large-scale variation in the human genome [ J ]. Nat Genet, 2004, 36 (9) : 949-951. DOI: i0. 1038/ng1416.
  • 7Watson CT, Marques-Bonet T, Sharp AJ, et al. The genetics of microdeletion and microduplication syndromes: an update [ J ]. Annu Rev Genomies Hum Genet, 2014,15: 215-244. DOI: 10. 1146/annurev-aenom-091212-153408.
  • 8Stefansson H, Rojescu D, Cichon S, et al. Large recurrent microde!etions associated with schizophrenia [ J ]. Nature, 2008, 11, 455(7210) : 232-236. DOI: 10. 1038/nature07229.
  • 9South ST, Lee C, Lamb AN, et al. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 [ J]. Genet Med, 2013, 15 ( 11 ) : 901-909. DOI: 10. 1038/gim. 2013. 129.
  • 10Guo Q, Zhou Y, Wang X, et al. Simultaneous detection of trisomies 13, 18, and 21 with multiplex ligation-dependent probe amplification-based real-time PCR [ J]. Clin Chem, 2010, 56 (9) : 1451-1459. DOI: 10. 1373/clinchem. 2010. 146472.

引证文献6

二级引证文献29

中华检验医学杂志
2015年 第4期

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