CO-FISH reveals inversions associated with isochromosome formation

CO-FISH reveals inversions associated with isochromosome formation
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DOI:
10.1093/mutage/11.2.139
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发表时间:
1996-03-01
期刊:
影响因子:
2.7
通讯作者:
Cornforth, MN
Cornforth, MN
中科院分区:
医学4区
文献类型:
--
作者:
Bailey, SM;Goodwin, EH;Cornforth, MN

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尽管倒位DNA序列在人类和其他物种中可能普遍存在并有记录的生物学影响,但我们常规检测它们的能力是有限的。染色体定向荧光原位杂交(CO-FISH)技术用于检测两种人类细胞系中与等染色体形成相关的专性染色体倒位,链特异性端粒探针的同时杂交使我们能够推断与反向区域相关的重复DNA序列的绝对方向,这些结果表明,原则上,CO-FISH可用于检测几乎任何类型的倒置,包括那些可能通过其他方法逃避检测的倒置。该技术的应用前景进行了讨论,其主要限制,目前可用的合适的单链DNA探针。
Despite the likely prevalence and documented biological impact of inverted DNA sequences in humans and other species, our ability to detect them on a routine basis is limited, The technique of chromosome orientation fluorescence in situ hybridization (CO-FISH) was used to detect obligate chromosome inversions associated with isochromosome formation in two human cell lines, Simultaneous hybridization of a strand-specific telomeric probe allowed us to deduce the absolute orientation of repetitive DNA sequences associated with the inverted region, These results show that, in principle, CO-FISH could be used to detect virtually any type of inversion, including those likely to escape detection by other methods. Prospective applications of the technique are discussed in relation to its principal limitation, the present availability of suitable single-stranded DNA probes.