Jacobs P A, Mayer M, Morton N E
Am J Hum Genet. 1976 Nov;28(6):567-76.
Heterogeneity among chromosomes was found to be a highly significant source of variation for association proportions, while culture, slide, and observer were negligible sources of variation for association proportions although important for numbers of associations. The consequences of these results for tests of group differences are discussed. It seems evident that each pair of acrocentric chromosomes has its own characteristic probability of entering into association. This is presumably a combination of the probability for each individual member of the pair, a proposition easily tested utilizing acrocentric chromosomes carrying polymorphisms which allow each member of the pair to be individually recognized. A mathematical theory for pairwise satellite association was developed and shown to fit observations on banded chromosomes. While we found very significant heterogeneity among individuals in the frequency with which different chromosomes entered into associations, there was no significant evidence for preferential association between any particular chromosomes, either heterologous or homologous. This finding in our material of apparently random associations between different chromosomes is contrary to claims made by other investigators and should be tested on other material. No correlation was found between the phenotype of the chromosome, as judged by cytogenetic polymorphisms, and its probability of association.
研究发现，染色体间的异质性是关联比例变异的一个高度显著来源，而培养、玻片和观察者对于关联比例而言是可忽略不计的变异来源，尽管它们对于关联数量很重要。文中讨论了这些结果对组间差异检验的影响。显然，每对近端着丝粒染色体都有其自身进入联会的特征概率。这大概是该对中每个个体成员概率的组合，这一命题可利用携带多态性的近端着丝粒染色体轻松检验，这些多态性使该对中的每个成员都能被单独识别。我们开发了一个关于成对卫星联会的数学理论，并证明其与带型染色体上的观察结果相符。虽然我们发现不同染色体进入联会的频率在个体间存在非常显著的异质性，但没有显著证据表明任何特定染色体（无论是异源还是同源）之间存在优先联会。我们材料中不同染色体之间明显随机联会的这一发现与其他研究者的说法相反，应在其他材料上进行检验。根据细胞遗传学多态性判断，未发现染色体的表型与其联会概率之间存在相关性。
