Pascoe L, Morton N E
Am J Hum Genet. 1987 Feb;40(2):174-83.
The analysis of multipoint data in humans involves detection of linkage, inferences about order, and estimation of map lengths. In order to calculate likelihoods, it is necessary to have predictive formulas for multiple recombination frequencies. In the present study the Markovian assumption of Morton and MacLean is generalized to give predictive formulas for multiple-region recombination using realistic map functions. The best-fitting map functions have been determined by fitting the nine-locus data of Morgan et al. and the seven-locus data of Weinstein on the Drosophila X chromosome. Two map functions fit the data better than other published functions: that of Rao et al. with a map parameter of P = .33 and a new function suggested in the present paper. The close agreement of the estimate of the mapping parameter with a previous estimate inferred from human male meiosis suggests that the map function is robust. A further improvement in the fit to the data can be obtained by the addition of a second parameter to reduce the expected number of multiple recombinants. By comparison with the map functions recommended in the present paper, the assumption of no interference gives a poor fit to the data.
对人类多点数据的分析涉及连锁检测、顺序推断和图距长度估计。为了计算似然性,需要有多个重组频率的预测公式。在本研究中,莫顿和麦克林的马尔可夫假设被推广,以使用实际的图谱函数给出多区域重组的预测公式。通过拟合摩根等人的九基因座数据和温斯坦在果蝇X染色体上的七基因座数据,确定了最佳拟合图谱函数。有两个图谱函数比其他已发表的函数更能拟合数据:拉奥等人的函数,图谱参数P = 0.33,以及本文提出的一个新函数。图谱参数估计值与先前从人类男性减数分裂推断出的估计值密切一致,这表明该图谱函数是稳健的。通过添加第二个参数以减少预期的多重重组体数量,可以进一步改善对数据的拟合。与本文推荐的图谱函数相比,无干扰假设对数据的拟合较差。