检测人二倍体淋巴细胞rDNA基因簇变化及活性AgNOR

Detection of Variation in the rDNA Gene Cluster and Active AgNOR in Human Diploid Lymphocyte

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:We were to detect the distribution and variation of the copies of rDNA gene cluster and the active AgNOR (nucleolar organizer region) in normal people. Methods: Fluorescence in situ hybridization and AgNO 3 staining were used respectively. Results: The rDNA gene cluster was distributed on secondary constriction at ten acrocentric chromosomes in group D and group G. Two of the acrocentric chromosomes in group D (13 and 15) were found to carry less number of rDNA gene copies as compared to the chromosomes in their counterparts. The modal number of active AgNOR was 4-8. Average active AgNOR was 5.8 (1740/300) in number per cell, 3.63(1089/300) in group D and 2.17(651/300) in group G. Conclusions: The results demonstrated that the rDNA gene cluster copies were distributed unequal in 10 acrocentric chromosomes and varied with active Ag-NOR which represents the transcriptional activity of rDNA gene. Active rDNA cluster copies were related to the size of silver staining spots.