Palotie A, Heiskanen M, Laan M, Horelli-Kuitunen N
Laboratory Department of Helsinki University Central Hospital, Finland.
Ann Med. 1996 Apr;28(2):101-6. doi: 10.3109/07853899609092933.
Mapping of the human genome has been a global effort utilizing both genetic and physical mapping techniques. One approach which has greatly facilitated the physical mapping of the human genome is fluorescence in situ hybridization (FISH). Although FISH is by now a well-established technology, new recently developed modifications have enabled an easier use and higher resolution. The high-resolution FISH techniques have given a special impact in positional cloning: searching the functional gene from a chromosomal area where the gene has been genetically localized. New high-resolution FISH techniques include hybridization of probes to free chromatin, DNA fibres or mechanically stretched chromosomes. These targets have widened the resolution of FISH to detect distances from the traditional cytogenetic resolution level down to a resolution of a few kilobases. They also have significantly speeded up high-resolution physical mapping and thus made the search of new disease genes easier.
人类基因组图谱绘制是一项全球性的工作，运用了遗传和物理图谱绘制技术。荧光原位杂交（FISH）极大地推动了人类基因组物理图谱绘制工作，这是其中一种方法。尽管如今FISH已是一项成熟的技术，但最近新开发的改进方法使其使用起来更加便捷，分辨率也更高。高分辨率FISH技术在定位克隆方面产生了特殊影响：从基因已被遗传定位的染色体区域寻找功能基因。新的高分辨率FISH技术包括将探针与游离染色质、DNA纤维或机械拉伸的染色体进行杂交。这些靶点拓宽了FISH的分辨率，能够检测的距离从传统细胞遗传学分辨率水平降至几千碱基的分辨率。它们还显著加快了高分辨率物理图谱绘制的速度，从而使寻找新的疾病基因变得更加容易。
