Thompson E A
Ann Hum Genet. 1981 Jul;45(3):279-92. doi: 10.1111/j.1469-1809.1981.tb00339.x.
An extensive Newfoundland genealogy shows a large number of cases of lymphoreticular malignancies. A recessive pattern of inheritance had been previously suggested, but no quantitative investigation of the hypothesis was made. Here we have investigated a variety of aspects of the descent structure of the pedigree and shown that for only a subset of the traits can the inference be upheld. For Hodgkin's disease (HD) and generalized immunodeficiency (ID) there is clear evidence for a recessive HD/ID susceptibility allele. The remainder do not follow this pattern, show no evidence of a single-locus effect and little of any genetic effect. The ancestry of the HD/ID cases was therefore investigated in detail, and likelihoods computed on the pedigree. These confirmed the recessive nature of the trait, as also did the risk analysis which quite clearly identified the paths of descent taken by the allele. The determination of these paths is a prerequisite for any linkage analysis which might further confirm the single-locus nature of the trait.
一份详尽的纽芬兰族谱显示出大量淋巴网状恶性肿瘤病例。此前曾有人提出隐性遗传模式,但未对该假说进行定量研究。在此,我们研究了该谱系的世系结构的多个方面,并表明只有部分性状的推断能够成立。对于霍奇金病(HD)和全身性免疫缺陷(ID),有明确证据表明存在隐性HD/ID易感等位基因。其余情况并不遵循这种模式,没有单基因座效应的证据,几乎也没有任何遗传效应的证据。因此,我们详细研究了HD/ID病例的祖先情况,并根据族谱计算了似然性。这些结果证实了该性状的隐性性质,风险分析也同样如此,风险分析清楚地确定了等位基因的遗传路径。确定这些路径是任何可能进一步证实该性状单基因座性质的连锁分析的先决条件。