Cremer T, Landegent J, Brückner A, Scholl H P, Schardin M, Hager H D, Devilee P, Pearson P, van der Ploeg M
Hum Genet. 1986 Dec;74(4):346-52. doi: 10.1007/BF00280484.
The localization of chromosome 18 in human interphase nuclei is demonstrated by use of radioactive and non-radioactive in situ hybridization techniques with a DNA clone designated L1.84. This clone represents a distinct subpopulation of the repetitive human alphoid DNA family, located in the centric region of chromosome 18. Under stringent hybridization conditions hybridization of L1.84 is restricted to chromosome 18 and reflects the number of these chromosomes present in the nuclei, namely, two in normal diploid human cells and three in nuclei from cells with trisomy 18. Under conditions of low stringency, cross-hybridization with other subpopulations of the alphoid DNA family occurs in the centromeric regions of the whole chromosome complement, and numerous hybridization sites are detected over interphase nuclei. Detection of chromosome-specific target DNAs by non-radioactive in situ hybridization with appropriate DNA probes cloned from individual chromosomal subregions presents a rapid means of identifying directly numerical or even structural chromosome aberrations in the interphase nucleus. Present limitations and future applications of interphase cytogenetics are discussed.
通过使用放射性和非放射性原位杂交技术，利用一个名为L1.84的DNA克隆，证明了18号染色体在人类间期核中的定位。该克隆代表了重复的人类α卫星DNA家族的一个独特亚群，位于18号染色体的着丝粒区域。在严格的杂交条件下，L1.84的杂交仅限于18号染色体，并反映了核中这些染色体的数量，即在正常二倍体人类细胞中为两条，在18三体细胞的核中为三条。在低严谨度条件下，α卫星DNA家族的其他亚群会在整个染色体组的着丝粒区域发生交叉杂交，并且在间期核上检测到许多杂交位点。通过与从单个染色体亚区域克隆的适当DNA探针进行非放射性原位杂交来检测染色体特异性靶DNA，是一种直接识别间期核中染色体数目甚至结构畸变的快速方法。文中讨论了间期细胞遗传学目前的局限性和未来的应用。
