Wang J H, Palmer R M, Chung C S
Department of Public Health Sciences, University of Hawaii, Honolulu 96822.
Am J Hum Genet. 1988 May;42(5):772-6.
The roles of major gene and multifactorial inheritance in the etiology of clubfoot (talipes equinovarus) were studied using Caucasian clubfoot families ascertained in Indiana. The method of analysis used was complex segregation analysis under the mixed model, in which five genetic parameters were examined to test hypotheses on major gene by displacement (t), degree of dominance (d), gene frequency (q), transmission probability (tau2), and multifactorial inheritance by heritability (H). The analysis showed that the segregation pattern of clubfoot in these families is best explained by assuming the action of a major gene with additional contribution of multifactorial inheritance. The estimates of the parameters under the best-fitting model were d = .82, t = 4.69, q = .030, tau2 = .50, and H = .17.
利用在印第安纳州确定的白人马蹄内翻足（畸形足）家族，研究了主基因和多因素遗传在马蹄内翻足病因学中的作用。所采用的分析方法是混合模型下的复杂分离分析，其中检测了五个遗传参数，以通过移位（t）、显性程度（d）、基因频率（q）、传递概率（tau2）检验主基因假设，并通过遗传力（H）检验多因素遗传。分析表明，假设存在一个主基因并伴有多因素遗传的额外作用，能最好地解释这些家族中马蹄内翻足的分离模式。最佳拟合模型下参数的估计值为d = 0.82，t = 4.69，q = 0.030，tau2 = 0.50，H = 0.17。
