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为了解异常核型者的rRNA基因活性及近端着丝粒染色体联合频率的变化规律 ,用硝酸银染色法对 14例染色体罗伯逊易位携带者 ,2 6例klinefelter综合征患者 ,16例Turner综合征患者及 30名正常对照 ,进行银染核仁组织者区 (Ag NOR)和银染近端着丝粒染色体联合 (Ag AA)频率的研究。发现Kinefelter综合征和Turner综合征患者的Ag NOR/细胞 ( 6 .93、6 .49)及Ag AA细胞 ( 1.0 2、1.0 5 )均显著高于对照 ( 5 .30、0 .6 0 )。罗伯逊易位携带者Ag +NOR/细胞 ( 5 .10 )与对照无显著性差异 ,Ag AA/细胞 ( 1.2 1)显著高于对照。提示罗伯逊易位丢失的rRNA基因可由其他近端着丝粒染色体上的rRNA基因增加转录活性来补偿 ,近端着丝粒染色体联合频率的增加可能与染色体不分离或易位的形成有关
In order to understand the variation of rRNA gene activity and the frequency of near-centromeric centromere in patients with abnormal karyotypes, 14 patients with Robertsonian translocations, 26 patients with klinefelter syndrome, 16 Turner’s syndrome Patients and 30 normal controls were studied for the frequency of Ag-NOR and Ag-AA. Ag NOR / cells (6 .93, 6.49) and Ag AA cells (1.02, 1.05) were found to be significantly higher in patients with Kinefelter syndrome and Turner syndrome than controls (5.30,0.60). There was no significant difference in Ag + NOR / cells (5.10) between Robertsonian translocation carriers and controls, with Ag AA / cells (1.2 1) being significantly higher than controls. Suggesting that the rRNA gene lost by Robertsonian translocation can be compensated for by increased transcriptional activity of rRNA genes on other proximal centromere chromosomes. The increased frequency of near-centromeric chromosome association may be related to the formation of non-segregating chromosomes or translocations