Recurrence equations for the number of types and the frequency of each type in a random sample drawn from a finite population undergoing discrete, nonoverlapping generations and reproducing according to the Cannings exchangeable model are deduced under the assumption of a mutation scheme with infinitely many types. The case of overlapping generations in discrete time is also considered. The equations are developed for the Wright-Fisher model and the Moran model, and extended to the case of the limit coalescent with nonrecurrent mutation as the population size goes to ∞ and the mutation rate to 0. Computations of the total variation distance for the distribution of the number of types in the sample suggest that the exact Moran model provides a better approximation for the sampling formula under the exact Wright-Fisher model than the Ewens sampling formula in the limit of the Kingman coalescent with nonrecurrent mutation. On the other hand, this model seems to provide a good approximation for a Λ-coalescent with nonrecurrent mutation as long as the probability of multiple mergers and the mutation rate are small enough.

An alternative version of the necessary and sufficient condition for almost sure fixation in the conditional branching process model is derived. This formulation provides an insight into why the examples considered in Buckley and Seneta (1983) all have the same condition for fixation.

A class of haploid population models with population size N, nonoverlapping generations and exchangeable offspring distribution is considered. Based on an analysis of the discrete ancestral process, we present solutions, algorithms and strong upper bounds for the expected time back to the most recent common ancestor which hold for arbitrary sample size n ∈ {1,…,N}. New insights into the asymptotic behaviour of the expected time back to the most recent common ancestor for large population size are presented relating the results to coalescent theory.

Previous study of the time to a common ancestor of all present-day individuals has focused on models in which each individual has just one parent in the previous generation. For example, ‘mitochondrial Eve’ is the most recent common ancestor (MRCA) when ancestry is defined only through maternal lines. In the standard Wright-Fisher model with population size n, the expected number of generations to the MRCA is about 2n, and the standard deviation of this time is also of order n. Here we study a two-parent analog of the Wright-Fisher model that defines ancestry using both parents. In this model, if the population size n is large, the number of generations, 𝒯n, back to a MRCA has a distribution that is concentrated around lgn (where lg denotes base-2 logarithm), in the sense that the ratio 𝒯n(lgn) converges in probability to 1 as n→∞. Also, continuing to trace back further into the past, at about 1.77 lgn generations before the present, all partial ancestry of the current population ends, in the following sense: with high probability for large n, in each generation at least 1.77lgn generations before the present, all individuals who have any descendants among the present-day individuals are actually ancestors of all present-day individuals.

A variety of convergence results for genealogical and line-of-descendent processes are known for exchangeable neutral population genetics models. A general convergence-to-the-coalescent theorem is presented, which works not only for a larger class of exchangeable models but also for a large class of non-exchangeable population models. The coalescence probability, i.e. the probability that two genes, chosen randomly without replacement, have a common ancestor one generation backwards in time, is the central quantity to analyse the ancestral structure.

A general exchangeable bisexual model with variable population sizes is introduced. First the forward process, i.e. the number of certain descending pairs, is studied. For the bisexual Wright-Fisher model fixation of the descendants occurs, i.e. their proportion tends to 0 or 1 almost surely.

The main part of this article deals with necessary and sufficient conditions for ultimate homozygosity, i.e. the proportion of an arbitrarily chosen allelic type tends to 0 or 1 almost surely. The results are applied to a bisexual Wright-Fisher model and to a bisexual Moran model.

This paper introduces exchangeable bisexual models with fixed population sizes and non-overlapping generations. In each generation there are N pairs of individuals consisting of a female and a male. The N pairs of a generation produce N daughters and N sons altogether, and these 2N children form the N pairs of the next generation at random.

First the extinction of the lines of descendants of a fixed number of pairs is studied, when the population size becomes large. Under suitable conditions this structure can be approximately treated in the framework of a Galton-Watson process. In particular it is shown for the Wright-Fisher model that the discrepancy between the extinction probabilities in the model and in the approximating Galton-Watson process is of order N.

Next, the process of the number of ancestor-pairs of all pairs of a generation is analysed. Under suitable conditions this process, properly normed, has a weak limit as N becomes large. For the Wright-Fisher model this limit is an Ornstein–Uhlenbeck process (restricted to a discrete time-set). The corresponding stationary distributions of the backward processes converge to the normal distribution, as expected.

Approximate results are obtained for the probability distribution of the number of mutant substitutions over a given number of generations. The distribution is a compound Poisson distribution having a variance which is greater than the mean. The substitutions occur in clusters. The most extreme case of clustering is studied in this paper, which assumes that there is no recombination between mutant nucleotides.

A new Markov chain is introduced which can be used to describe the family relationships among n individuals drawn from a particular generation of a large haploid population. The properties of this process can be studied, simultaneously for all n, by coupling techniques. Recent results in neutral mutation theory are seen as consequences of the genealogy described by the chain.