国际妇产科学杂志

国际妇产科学杂志 ›› 2010, Vol. 37 ›› Issue (6): 383-386.

• 综述 • 上一篇    下一篇

光谱核型分析技术在细胞遗传中的应用

宋花蕾, ,陈宝江, 方群   

  1. 518000 广州，中山大学附属第一医院妇产科胎儿医学中心
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2010-12-15 发布日期:2010-12-15
  • 通讯作者: 陈宝江 方 群

Application of Spectral Karyotyping in Cytogenetics

SONG Hua-lei，CHEN Bao-jiang，FANG Qun   

  1. Fetal Medicine Center，Department of Obstetrics and Gynecology，the First Affiliated Hospital，Sun Yat-sen University，Guangzhou 510080，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2010-12-15 Online:2010-12-15
  • Contact: chenbaojiang,fang_qun@163.com

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摘要： G显带核型分析技术是细胞遗传工作中的常规显带技术。然而其不能发现小的或复杂的染色体异常。而光谱核型分析技术则使人类24种染色体同时染色，仅通过1次实验就可直观、快速地观察所有染色体。其能够发现隐匿性及复杂的染色体异常、能确定标记染色体的来源及其他不明来源的衍生染色体，因而成为常规染色体核型分析技术的有益补充。近年结合G显带、荧光原位杂交（FISH）技术，光谱核型分析技术已应用于诊断复杂性染色体异常以及确定标记染色体的来源，亦可用于检测未受精卵细胞非整倍体。综述该技术在细胞遗传工作中的应用。

关键词: 光谱核型分析, 染色体畸变, 遗传标记, 易位, 遗传, 染色体显带, 非整倍体

Abstract: G banding karyotype is a routine technique in cytogenetic work. However， this analysis fails to detect small or complex chromosome aberration. Spectral karyotyping（SKY） is a 24-color，multi-chromosomal painting assay that allows the visualization of all human chromosomes in one experiment. The ability for SKY analysis to detect equivocal or complex chromosomal rearrangements，as well as identify the chromosomal origins of marker chromosomes and other unknown derivative chromosomes structures， makes this a benefit supplementary tool to the standard cytogenetic techniques. Recently，combined with G banding and FISH，SKY has been applied to identifying the complex chromosome aberration and the origin of marker chromosme. SKY is also applied to detecting oocyte aneuploidy.This review aims to summarize the application of SKY in cytogenetics.

Key words: Spectral karyotyping, Chromosome aberrations, Genetic markers, Translocation, genetic, Chromosome banding