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频谱染色体核型分析及在妇产科领域的应用 被引量：1

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摘要 频谱染色体核型分析(SKY)技术是新出现的一种分子细胞遗传学方法,除能对24条人类染色体进行同步分析之外,还能识别传统显带技术和单用荧光原位杂交难以确认的一些畸变,具有直观、敏感、快速等优点。综述SKY技术的原理及其在妇产科领域中的应用。
作者 任宇珂 吕时铭
机构地区 浙江大学医学院附属妇产科医院
出处 《国外医学（妇产科学分册）》 2004年第5期271-274,共4页 Foreign Medical Sciences(Obstet Gynecol Fascicle)
关键词 染色体核型分析 妇产科 新出现 人类染色体 单用 荧光原位杂交 分子细胞遗传学 显带技术 领域 敏感
分类号 R711 [医药卫生—妇产科学]
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参考文献20

  • 1Schrock E, du Manoir S, Veldman T, et al. Multicolor spectral karyotyping of human chromosomes.Science, 1996,273(5274):494-497.
  • 2Veldman T, Vignon C, Schrock E, et al. Hidden chromosome abnormalities in haematological malignancies detected by muhicolour spectral karyotyping. Nat Genet, 1997, 15(4):406-410.
  • 3Rao PH, Harris CP, Yan Lu X, et al. Multicolor spectral karyotyping of serous ovarian adenocarcinoma. Genes Chromosomes Cancer, 2002,33(2): 123-132.
  • 4Bayani J, Brenton JD, Macgregor PF, et al. Parallel analysis of sporadic primary ovarian carcinomas by spectral karyotyping, comparative genomic hybridization, and expression microarrays. Cancer Res ,2002,62(12):3466-3476.
  • 5Cahill DE Lengauer C, Yu J, et al. Mutations of mitotic checkpoint genes in human cancers. Nature, 1998,392(6673):300-303.
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  • 7Yaron Y, Cannon E, Goldstein M, et al. The clinical application of spectral karyotyping (SKY) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs). Prenat Diagn, 2003,23(1):74-79.
  • 8Rothlisberger B, Kotzot D, Brecevic L, et al. Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. Eur J Hum Genet, 1999, 7(8):873-883.
  • 9Takeuchi K, Oomori S, Oda N, et al. Laparoscopic gonadectomy in a case of a dicentric fluorescent Y-chromosome mosaicism with Turnerlike phenotype and virilized external genitalia. Eur J Gynaecol Oncol,2003, 24(5):379-380.
  • 10Kotzot D, Holland H, Kohler M, et al. A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, fluorescence in situ hybridisation,and spectral karyotyping. Ann Genet, 2001,44(3):135-138.

同被引文献6

  • 1任宇珂,吕时铭,裘俭,吴莉莉.光谱核型分析技术在产前诊断染色体复杂核型异常中的应用[J].中华妇产科杂志,2004,39(10):705-706. 被引量：5
  • 2Tanemura M, Suzmnori K, Nishikawa N, et al. Muhicolour spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies. Prenat Diagn, 2001,21:1123-1128.
  • 3Guanciali-Franchi P, Calatrese G, Morizio E, et al. Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis. Am J Med Genet ,2004,127: 144-148.
  • 4Peschka B, Leygraaf J, Hansmann D, et al. Analysis of a de novo complex chromosome rearrangement involving chromosomes 4,11,12 and 13 and eight breakpoints by conventional eytogenetie, fluorescence in situ hybridization and spectral karyotyping. Prenat Diagn, 1999, 19: 1143-1149.
  • 5Yaron Y, Careen E, Goldstein M, et al. The clinical application of spectral karyotyping (SKY) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (E.SACs). Prenat Diagn, 2003, 23:74-79.
  • 6徐路生.光谱核型分析技术及其应用[J].国外医学（遗传学分册）,1999,22(4):207-214. 被引量：2

引证文献1

二级引证文献2

国外医学（妇产科学分册）
2004年 第5期

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