Donnelly K P
Theor Popul Biol. 1983 Feb;23(1):34-63. doi: 10.1016/0040-5809(83)90004-7.
A formal mathematical framework is presented for the study of linkage in man and the concept of chromosome pedigree is defined for both autosomes and X chromosomes. It is shown that, assuming no interference, all the crossover processes in the pedigree may be viewed jointly as a continuous-time Markov random walk on the vertices of a hypercube, the time parameter being map distance along the chromosome. The event that two individuals have a segment of chromosome in common, thus proving them to be related, corresponds to the random walk hitting a particular set of vertices. The probability of this happening is calculated for various types of relationship, making use of the symmetry of the situation to partition the vertices into a very much smaller number of orbits and render the computation manageable. The probability that an individual with n children passes on all his or her genes to them is also calculated in this way.
提出了一个用于研究人类连锁关系的形式化数学框架,并为常染色体和X染色体定义了染色体谱系的概念。结果表明,在不考虑干涉的情况下,谱系中的所有交叉过程可共同视为超立方体顶点上的连续时间马尔可夫随机游走,时间参数为沿染色体的图距。两个个体有一段共同染色体从而证明他们具有亲缘关系的事件,对应于随机游走到达特定的一组顶点。利用情况的对称性将顶点划分为数量少得多的轨道并使计算可控,计算了各种亲缘关系下这种情况发生的概率。同样以这种方式计算了一个有n个孩子的个体将其所有基因都传递给他们的概率。