Beek B
Hum Genet. 1981;59(3):240-4. doi: 10.1007/BF00283672.
Satellite associations were analysed in differentially stained human leukocyte chromosomes, obtained from four patients with Down's syndrome and four normal probands. A particular type of close association between two acrocentrics, showing a non-random arrangement of sister chromatids in a concordant dark-to-dark and light-to-light alignment, was found to be more common in patients with Down's syndrome compared with the normal controls. Apart from this particular type of association, sister chromatids are randomly arranged in satellite associations between two acrocentrics in both groups of probands. Considerable differences in the mean frequencies of satellite associations between first and second metaphases of the same individual were found in some probands of both groups of individuals. Since a high degree of inter-individual variability in the proliferative response of human leukocytes in culture is well established, the use of BUdR-Giemsa labeling for comparative analysis of satellite association frequencies is suggested.
对从4名唐氏综合征患者和4名正常先证者获取的经不同染色的人类白细胞染色体中的随体联合进行了分析。发现唐氏综合征患者中，两条近端着丝粒染色体之间一种特殊类型的紧密联合更为常见，这种联合表现为姐妹染色单体以暗对暗、亮对亮的一致排列方式呈现非随机排列，而正常对照组中这种情况较少。除了这种特殊类型的联合外，两组先证者中两条近端着丝粒染色体之间的随体联合中，姐妹染色单体都是随机排列的。在两组个体的一些先证者中，发现同一个体第一次和第二次中期随体联合的平均频率存在相当大的差异。鉴于人类白细胞在培养中的增殖反应存在高度个体间变异性，建议使用5-溴脱氧尿苷-吉姆萨染色法对随体联合频率进行比较分析。
