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目的:检测脱氧核糖核酸重组体(rDNA)基因簇在人正常二倍体淋巴细胞染色体上的分布和拷贝数的变化以及活性银染核仁形成区(AgNOR)。方法:应用荧光原位杂交(FISH)结合Q显带方法和硝酸银染色法。结果:rDNA基因簇分布于D组和G组10条近端着丝粒染色体副缢痕处,D组中的1条13号和1条15号染色体上的rDNA基因的拷贝数低于D组和G组其它染色体上的拷贝数,活性AgNOR众数(modal)为4~8个,每个细胞平均有5.8(1740/300)个活性AgNOR,D组为3.63个/细胞(1089/300),G组为2.17个/细胞(651/300)。结论:rDNA基因簇拷贝数在10条近端着丝粒染色体上分布不均一,AgNOR反映了rDNA基因转录活性,rDNA基因簇数与活性AgNOR数不一致,活性rDNA拷贝数与AgNOR银染颗粒大小相关。
Objective: To detect the distribution and copy number of deoxyribonucleic acid recombinant (rDNA) gene cluster in human normal diploid lymphocytes and the AgNOR. Methods: Fluorescence in situ hybridization (FISH) combined with Q banding method and silver nitrate staining. Results: The rDNA gene cluster was distributed in 10 proximal paracancerous palats of group D and group G. The copy numbers of rDNA gene on chromosomes 13 and 15 of group D were lower than that of group D And other G chromosomes, the number of active AgNOR moduli was 4 to 8, with an average of 5.8 (1740/300) active AgNORs per cell and 3.63 cells / cell in group D 1089/300), G group was 2.17 cells / cell (651/300). CONCLUSION: The copy number of rDNA gene cluster is unevenly distributed on the 10 proximal centromere chromosomes. AgNOR reflects the rDNA gene transcription activity, the number of rDNA gene clusters is not consistent with the number of active AgNORs, and the number of active rDNA copies correlates with the size of AgNOR silver stain .