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通过染色体分选和染色进行基因分析:系统发育及诊断应用

Genetic analysis by chromosome sorting and painting: phylogenetic and diagnostic applications.

作者信息

Ferguson-Smith M A

机构信息

Department of Pathology, University of Cambridge, UK.

出版信息

Eur J Hum Genet. 1997 Sep-Oct;5(5):253-65.

PMID:9412781
Abstract

Chromosome sorting from fluid suspensions of metaphase chromosomes using a fluorescence-activated cell sorter has been used for a number of years to produce chromosome-specific genomic libraries and other reagents for chromosome mapping. Improved techniques for fluorescence in situ hybridisation and the amplification and labelling of sorted chromosomes using degenerate oligonucleotide-primed PCR have led to the widespread use of chromosome painting both for the resolution of complex chromosome aberrations and for the study of karyotype evolution by cross-species reciprocal chromosome painting. The chromosomes of a large number of different species have been sorted and used to make chromosome-specific paints and already new data challenging results of earlier phylogenetic studies have been obtained. Sorted chromosomes provide the resource for multicolour chromosome analysis of all chromosomes simultaneously. Such reagents are now available for all human and mouse chromosomes and are proving particularly useful in the analysis of cancer chromosomes.

摘要

多年来,利用荧光激活细胞分选仪从处于中期的染色体的流体悬浮液中进行染色体分选,已被用于构建染色体特异性基因组文库以及制备用于染色体图谱绘制的其他试剂。荧光原位杂交技术的改进,以及使用简并寡核苷酸引物PCR对分选的染色体进行扩增和标记,使得染色体涂染技术得到广泛应用,既用于解析复杂的染色体畸变,也用于通过跨物种相互染色体涂染来研究核型进化。大量不同物种的染色体已被分选出来,用于制备染色体特异性涂染探针,并且已经获得了新的数据,这些数据对早期系统发育研究的结果提出了挑战。分选的染色体为同时对所有染色体进行多色染色体分析提供了资源。现在,针对所有人类和小鼠染色体的此类试剂均已可得,并且在癌症染色体分析中证明特别有用。

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