By CIBA Foundation Symposium

The mapping of human genes is continuing quickly. Genes linked to particular inherited ailments are being pointed out, frequently delivering perception into the molecular reason behind the sickness. for the time being, besides the fact that, little attention is being given to the difference found in diversified human populations. version within the Human Genome discusses equipment of analysing inhabitants genetic info and the way modern genetic heterogeneity arises in the course of the evolution and migration of human populations. particular issues corresponding to cystic fibrosis, beta-thalassaemia, fragile X, phenylketonuria and tumour improvement susceptibility are used to demonstrate this genetic variability and mechanisms of gene mutation and evolution.

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**Variation in the Human Genome (Novartis Foundation Symposia)**

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2 for which the tree has exactly j branches are independent, exponentially distributed random variables with Thus, Var( T,) = 4 j * (j - 112. e. Note that most of the depth of the tree, and almost all of the variability in t h s depth, is due to the times for which there are only a small number of ancestors. In particular, the expected time for which there are exactly two ancestors is over half the expected depth of the tree, and the variance of this time is 1. Each time the number of branches in the tree decreases, the coalescence is equally likely to involve any of the possible pairs of branches in the tree at that time.

SpringerVerlag, in press Takahata N 1993 Allelic genealogy and human evolution. Mol Biol Evol 10:2-22 Tavark S 1984 Line-of-descent and genealogical processes, and their applications in population genetics models. Theor Popul Biol46: 119-164 DISCUSSION Chukruborty: I would like to make two points. First, coalescent theory is mathematically rigorous and can be applied to many complicated gene histories. However, we cannot observe the coalescent tree without the superimposition of mutation events.

Two branches in the tree coalesce each time the corresponding ancestral genes themselves share a common ancestor, until the entire sample is traced back to the single ancestral gene from which all are descended. The coalescent has a particularly simple structure. Time is measured in units of N/02generations, where N is the number of haploid genes in the population and o2is the variance of the number of direct copies in the next generation of a gene in the current generation. Throughout this paper I will assume, as is common, that the value of o2is 1.