Yip M Y, Fox D P
Hum Genet. 1981;59(3):245-9. doi: 10.1007/BF00283673.
Acrocentric association was investigated in peripheral blood lymphocytes of twins (10 female monozygotic and 11 females dizygotic pairs), newborns and both parents (30 families), and spouses (51 pairs). Seventy two hour cultures were G-banded and scored for both absolute and relative acrocentric association frequency, except in the case of the spouse pairs where only the absolute frequency was measured. Both relative and absolute parameters of acrocentric association show positive correlations between relatives with the values being highest and most consistent in monozygotic twins, intermediate in parent and offspring, and most variable in dizygotic twins. Husband and wife pairs from our family collections show a positive correlation for the absolute parameter but not for relative parameters. The environmental factors responsible have not been identified. A rough estimate of broad sense heritability (0.81) has been made for the relative parameters. It probably contains a large component due to genetic dominance. Heritability of the absolute parameters is probably lower than for the relative parameters though estimation of its value is complicated by inconsistent results. A model is proposed to account for the variation in satellite association frequency which contains two elements: (i) The genotype determines the ratio of one chromosome type to another in the population of associated chromosomes (ii) All other environmental factors influence the absolute frequency of association without altering this basic ratio.
在双胞胎(10对女性同卵双胞胎和11对女性异卵双胞胎)、新生儿及其父母(30个家庭)以及配偶(51对)的外周血淋巴细胞中研究了近端着丝粒联合。除了配偶对仅测量绝对频率外,对72小时培养物进行G显带,并对绝对和相对近端着丝粒联合频率进行评分。近端着丝粒联合的相对参数和绝对参数在亲属之间均呈正相关,其中同卵双胞胎中的值最高且最一致,亲子之间居中,异卵双胞胎中变化最大。我们家族样本中的夫妻对绝对参数呈正相关,但相对参数则不然。尚未确定相关的环境因素。已对相对参数进行了广义遗传力的粗略估计(0.81)。它可能包含很大一部分由于基因显性导致的成分。绝对参数的遗传力可能低于相对参数,尽管由于结果不一致,对其值的估计较为复杂。提出了一个模型来解释卫星联合频率的变化,该模型包含两个要素:(i)基因型决定了相关染色体群体中一种染色体类型与另一种染色体类型的比例;(ii)所有其他环境因素影响联合的绝对频率,而不改变这个基本比例。