CHARACTERIZATION OF HUMAN CHROMOSOMAL CONSTITUTIVE HETEROCHROMATIN

Our results are presented in Table I. A different variability of centromeric hetero­chromatin of chromosomes 1, 9 and 16 was observed. Quite a low variability was found in chromosome 16, while chromosomes 9 and 1 showed a high degree of variability, which was more accentuated in chromosome 9 than in chromo­some 1. In all four groups of persons there was a similar pattern of variability with the only exception mentioned below. On the whole, band 1q12 was either enlarged or diminished, while band 9q12 was most frequently enlarged. Pericentric inversions were observed very rarely and only on chromosome 9. The only exception was found in the nearest relatives of children with abnor­mal phenotype and karyotype: an unusually narrow band 1q12 was frequently detected, often onboth members of the chromosomal pair. The study is to be continued.本研究结果详见表I。本研究观察到1号、9号及16号染色体的着丝粒异染色质（centromeric heterochromatin）存在不同程度的变异。其中16号染色体的变异程度相对较低，而9号与1号染色体的变异程度较高，且9号染色体的变异相较于1号染色体更为显著。在全部四组受试人群中，染色体变异模式均保持一致，仅存在下文中提及的唯一例外情况。总体而言，1q12区带要么表现为扩增，要么呈现缩窄状态；而9q12区带则最常出现扩增现象。臂间倒位（pericentric inversion）的检出率极低，且仅见于9号染色体。唯一的例外情况见于携带异常表型与核型患儿的近亲属群体中：该群体中常可检出异常狭窄的1q12区带，且往往同时出现在该染色体对的两条同源染色体上。本研究仍在进行中。