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1.
We generalize a recently introduced graphical framework to compute the probability that haplotypes or genotypes of two individuals drawn from a finite, subdivided population match. As in the previous work, we assume an infinite-alleles model. We focus on the case of a population divided into two subpopulations, but the underlying framework can be applied to a general model of population subdivision. We examine the effect of population subdivision on the match probabilities and the accuracy of the product rule which approximates multi-locus match probabilities as a product of one-locus match probabilities. We quantify the deviation from predictions of the product rule by R, the ratio of the multi-locus match probability to the product of the one-locus match probabilities. We carry out the computation for two loci and find that ignoring subdivision can lead to underestimation of the match probabilities if the population under consideration actually has subdivision structure and the individuals originate from the same subpopulation. On the other hand, under a given model of population subdivision, we find that the ratio R for two loci is only slightly greater than 1 for a large range of symmetric and asymmetric migration rates. Keeping in mind that the infinite-alleles model is not the appropriate mutation model for STR loci, we conclude that, for two loci and biologically reasonable parameter values, population subdivision may lead to results that disfavor innocent suspects because of an increase in identity-by-descent in finite populations. On the other hand, for the same range of parameters, population subdivision does not lead to a substantial increase in linkage disequilibrium between loci. Those results are consistent with established practice. 相似文献
2.
Measurement of linkage disequilibrium involves two sampling processes. First, there is the sampling of gametes in the population to form successive generations, and this generates disequilibrium dependent on the effective population size (Ne) and the mating structure. Second, there is sampling of a finite number (n) of individuals to estimate the population disequilibrium.——Two-locus descent measures are used to describe the mating system and are transformed to disequilibrium moments at the final sampling. Approximate eigenvectors for the transition matrix of descent measures are used to obtain formulae for the variance of the observed disequilibria as a function of Ne, mating structure, n, and linkage or recombination parameter.——The variance of disequilibrium is the same for monoecious populations with or without random selfing and for dioecious populations with random pairing for each progeny. With monogamy, the variance is slightly higher, the proportional difference being greater for unlinked loci. 相似文献
3.
For finite populations, differences in individual histories can cause between-locus allelic dependencies even for unlinked loci. The main motivation for this study is to quantify the effect of such dependencies on genotypic match probabilities. We compare the two-locus match probability, the probability that two individuals (four gametes) chosen at random will have the same genotype at both loci, with the probability computed as the product of the one-locus match probabilities. It is demonstrated that the product rule probability always underestimates the two-locus match probability. For highly mutable minisatellite loci, these probabilities can differ by an order of magnitude or more. A simplified three-locus problem is explored, providing evidence that the degree of under-estimation worsens for more loci. 相似文献
4.
G. B. Golding 《Genetics》1984,108(1):257-274
The probabilities of obtaining particular samples of gametes with two completely linked loci are derived. It is assumed that the population consists of N diploid, randomly mating individuals, that each of the two loci mutate according to the infinite allele model at a rate µ and that the population is at equilibrium. When 4Nµ is small, the most probable samples of gametes are those that segregate only two alleles at either locus. The probabilities of various samples of gametes are discussed. The results show that most samples with completely linked loci have either a very small or a very large association between the alleles of each locus. This causes the distribution of linkage disequilibrium to be skewed and the distribution of the correlation coefficient to be bimodal. The correlation coefficient is commonly used as a test statistic with a chi square distribution and yet has a bimodal distribution when the loci are completely linked. Thus, such a test is not likely to be accurate unless the rate of recombination between the loci and/or the effective population size are sufficiently large enough so that the loci can be treated as unlinked. 相似文献
5.
One of the fundamental assumptions in the multi-locus approach to phylogeographic studies is that unlinked loci have independent
genealogies. For this reason, congruence among gene trees from unlinked loci is normally interpreted as support for the existence
of external forces that may have concordantly shaped the topology of multiple gene trees. However, it is also important to
address and quantify the possibility that gene trees within a given species are all inherently constrained to some degree
by their shared organismal pedigree, and thus in this strict sense are not entirely independent. Here we demonstrate by computer
simulations that gene trees from a shared pedigree tend to display higher topological concordance than do gene trees from
independent pedigrees with the same demographic parameters, but we also show that these constraining effects are normally
minor in comparison to the much higher degree of topological concordance that can routinely emerge from external phylogeographic
shaping forces. The topology-constraining effect of a shared pedigree decreases as effective population size increases, and
becomes almost negligible in a random mating population of more than 1,000 individuals. Moreover, statistical detection of
the pedigree effect requires a relatively large number of unlinked loci that far exceed what is typically used in current
phylogeographic studies. Thus, with the possible exception of extremely small populations, multiple unlinked genes within
a pedigree can indeed be assumed, for most practical purposes, to have independent genealogical histories. 相似文献
6.
Use of unlinked genetic markers to detect population stratification in association studies. 总被引:38,自引:0,他引:38
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We examine the issue of population stratification in association-mapping studies. In case-control studies of association, population subdivision or recent admixture of populations can lead to spurious associations between a phenotype and unlinked candidate loci. Using a model of sampling from a structured population, we show that if population stratification exists, it can be detected by use of unlinked marker loci. We show that the case-control-study design, using unrelated control individuals, is a valid approach for association mapping, provided that marker loci unlinked to the candidate locus are included in the study, to test for stratification. We suggest guidelines as to the number of unlinked marker loci to use. 相似文献
7.
We investigated the evolution of monogamy (one male, one female) and polygyny (one male, more than one female). In particular, we studied whether it is possible for a mutant polygynous mating strategy to invade a resident population of monogamous breeders and, alternatively, whether a mutant monogamy can invade resident polygyny. Our population obeys discrete-time Ricker dynamics. The role of males and females in the breeding system is incorporated via the harmonic birth function. The results of the invasability analysis are straightforward. Polygyny is an evolutionarily stable strategy mating system; this holds throughout the examined range of numbers of offspring produced per female. So that the two strategies can coexist, polygyny has to be punished. The coexistence of monogamy and polygyny is achieved by reducing the offspring number for polygyny relative to monogamy. This yields long-term persistence of the strategies for all offspring numbers studied. An alternative punishment is to increase the sensitivity of polygynous breeders to population density. The coexistence is possible only with a limited range of offspring produced. The third way to achieve coexistence of the two mating strategies is to assume that individuals live in a spatially structured population, where dispersal links population subunits to a network. Reducing the dispersal rate of polygynous breeders relative to that of monogamous individuals makes the coexistence feasible. However, for monogamy to persist, the number of offspring produced has to be relatively high. 相似文献
8.
ldne: a program for estimating effective population size from data on linkage disequilibrium 总被引:1,自引:0,他引:1
ldne is a program with a Visual Basic interface that implements a recently developed bias correction for estimates of effective population size (N(e) ) based on linkage disequilibrium data. The program reads genotypic data in standard formats and can accommodate an arbitrary number of samples, individuals, loci, and alleles, as well as two mating systems: random and lifetime monogamy. ldne calculates separate estimates using different criteria for excluding rare alleles, which facilitates evaluation of data for highly polymorphic markers such as microsatellites. The program also introduces a jackknife method for obtaining confidence intervals that appears to perform better than parametric methods currently in use. 相似文献
9.
A method for estimating the number of founding chromosomes in an isolated population is introduced. The method assumes that n/2 diploid individuals are sampled from a population and that alleles are identified at L unlinked loci. The population is assumed to have been founded T generations in the past by individuals carrying c chromosomes drawn randomly from a known source population, which has also been sampled. If c is small and the population grew rapidly after it was founded, accurate estimates of c can be obtained and those estimates are not sensitive to details of the history of population sizes. If c is larger or the population remained small after it was founded, then estimates of c depend on the history of population sizes. We test the performance of our method on simulated data and demonstrate its use on data from a rainbow trout (Oncorhynchus mykiss) population. 相似文献
10.
Use of microsatellite loci to classify individuals by relatedness 总被引:19,自引:1,他引:18
This study investigates the use of microsatellite loci for estimating relatedness between individuals in wild, outbred, vertebrate populations. We measured allele frequencies at 20 unlinked, dinucleotide-repeat microsatellite loci in a population of wild mice ( Mus musculus ), and used these observed frequencies to generate the expected distributions of pairwise relatedness among full sib, half sib, and unrelated pairs of individuals, as would be estimated from the microsatellite data. In this population one should be able to discriminate between unrelated and full-sib dyads with at least 97% accuracy, and to discriminate half-sib pairs from unrelated pairs or from full-sib pairs with better than 80% accuracy. If one uses the criterion that parent-offspring pairs must share at least one allele per locus, then only 15% of full-sib pairs, 2% of half-sib pairs, and 0% of unrelated pairs in this population would qualify as potential parent-offspring pairs. We verified that the simulation results (which assume a random mating population in Hardy-Weinberg and linkage equilibrium) accurately predict results one would obtain from this population in real life by scoring laboratory-bred full- and half-sib families whose parents were wild-caught mice from the study population. We also investigated the effects of using different numbers of loci, or loci of different average heterozygosities ( He ), on misclassification frequencies. Both variables have strong effects on misclassification rate. For example, it requires almost twice as many loci of He = 0.62 to achieve the same accuracy as a given number of loci of He = 0.75. Finally, we tested the ability of UPGMA clustering to identify family groups in our population. Clustering of allele matching scores among the offspring of four sets of independent maternal half sibships (four females, each mated to two different males) perfectly recovered the true family relationships. 相似文献
11.
The variance of sample heterozygosity, averaged over several loci, is studied in a variety of situations. The variance depends on the sampling implicit in the mating system as well as on that explicit in the loci scored and individuals sampled. There are also effects of allelic distributions over loci and of linkage or linkage disequilibrium between pairs of loci. Results are obtained for populations in drift and mutation balance, for infinite populations undergoing mixed self and random mating, and for finite monoecious populations with or without selfing. For unlinked loci in drift/mutation balance, variances appear to be lessened more by increasing the number of loci scored than by increasing the number of individuals sampled. For infinite populations under the mixed self and random mating system, however, the reverse is true. Methods for estimating the variance of sample heterozygosity are discussed, with attention being paid to unbalanced data where not all loci are scored in all individuals. 相似文献
12.
Using multilocus individual heterozygosity, a method is developed to estimate the outcrossing rates of a population over a few previous generations. Considering that individuals originate either from outcrossing or from n successive selfing generations from an outbred ancestor, a maximum-likelihood (ML) estimator is described that gives estimates of past outcrossing rates in terms of proportions of individuals with different n values. Heterozygosities at several unlinked codominant loci are used to assign n values to each individual. This method also allows a test of whether populations are in inbreeding equilibrium. The estimator's reliability was checked using simulations for different mating histories. We show that this ML estimator can provide estimates of outcrossing rates for the final generation outcrossing rate (t(0)) and a mean of the preceding rates (t(p)) and can detect major temporal variation in the mating system. The method is most efficient for low to intermediate outcrossing levels. Applied to nine populations of wheat, this method gave estimates of t(0) and t(p). These estimates confirmed the absence of outcrossing t(0) = 0 in the two populations subjected to manual selfing. For free-mating wheat populations, it detected lower final generation outcrossing rates t(0) = 0-0.06 than those expected from global heterozygosity t = 0.02-0.09. This estimator appears to be a new and efficient way to describe the multilocus heterozygosity of a population, complementary to Fis and progeny analysis approaches. 相似文献
13.
The Australian lizard Egernia stokesii lives in spatially and temporally stable groups of up to 17 individuals. We have recently shown that these groups are comprised of breeding partners, their offspring and, in some cases, highly related adults, providing the first genetic evidence of a family structure in any lizard species. Here we investigated the mating system of E. stokesii using data from up to eight polymorphic microsatellite loci and tested the hypothesis that breeding partners are monogamous both within and between mating seasons. Among 16 laboratory-born litters from field collected gravid females from two sites in South Australia, 75% had a single male parent and no male contributed to more than one litter, indicating a high level of genetic monogamy within a season. Additional analyses of field caught individuals, captured between 1994 and 1998, enabled assignment of parentage for 70 juveniles and subadults. These data showed that most young (88.6%) had both parents from within the same group and that high proportions of males (88.9%) and females (63.6%) have multiple cohorts of offspring only with the same partner. Our results suggest that monogamy both within and between seasons is a common mating strategy of E. stokesii and that breeding partners maintain stable associations together and with multiple cohorts of their offspring over periods of up to at least 5 years. 相似文献
14.
We describe a new method of estimating the selfing rate (S) in a mixed mating population based on a population structure approach that accounts for possible intergenerational correlation in selfing rate, giving rise to an estimate of the upper limit for heritability of selfing rate (h(2)). A correlation between generations in selfing rate is shown to affect one- and two-locus probabilities of identity by descent. Conventional estimates of selfing rate based on a population structure approach are positively biased by intergenerational correlation in selfing. Multilocus genotypes of individuals are used to give maximum-likelihood estimates of S and h(2) in the presence of scoring artifacts. Our multilocus estimation of selfing rate and its heritability (MESH) method was tested with simulated data for a range of conditions. Selfing rate estimates from MESH have low bias and root mean squared error, whereas estimates of the heritability of selfing rate have more uncertainty. Increasing the number of individuals in a sample helps to reduce bias and root mean squared error more than increasing the number of loci of sampled individuals. Improved estimates of selfing rate, as well as estimates of its heritability, can be obtained with this method, although a large number of loci and individuals are needed to achieve best results. 相似文献
15.
Ayres KL 《Genetica》2000,108(2):137-143
A two-locus match probability is presented that incorporates the effects of within-subpopulation inbreeding (consanguinity)
in addition to population subdivision. The usual practice of calculating multi-locus match probabilities as the product of
single-locus probabilities assumes independence between loci. There are a number of population genetics phenomena that can
violate this assumption: in addition to consanguinity, which increases homozygosity at all loci simultaneously, gametic disequilibrium
will introduce dependence into DNA profiles. However, in forensics the latter problem is usually addressed in part by the
careful choice of unlinked loci. Hence, as is conventional, we assume gametic equilibrium here, and focus instead on between-locus
dependence due to consanguinity. The resulting match probability formulae are an extension of existing methods in the literature,
and are shown to be more conservative than these methods in the case of double homozygote matches. For two-locus profiles
involving one or more heterozygous genotypes, results are similar to, or smaller than, the existing approaches.
This revised version was published online in August 2006 with corrections to the Cover Date. 相似文献
16.
H. Gregorius 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》1980,57(1):17-24
Summary Considerations proceed from a model of positive assortative mating based on genotype at one locus, with an arbitrary number of alleles, assuming no selection, mutation, or migration, hypothetically infinite population size, and discrete non-overlapping generations. From these conditions, inferences are made about the genotypic structure at a linked locus, as well as about the corresponding 2-locus gametic structure.The following main results are presented: in the course of the generations, the genotypic structure at the second locus and the 2-locus gametic structure always tend to a limit responsive to the initial conditions concerning the joint genotypic structure at the two loci and the degree of assortativity and linkage. A complete, analytical representation of the limits is given. In particular, if assortative mating is only partial and at the same time linkage is not complete, a population is not able to maintain a permanent deviation of the gametic structure from linkage equilibrium, and thus the genotypic structure at the second locus tends to Hardy-Weinberg proportions. On the other hand, if initial linkage disequilibrium is combined with partial assortative mating and complete linkage (or with complete assortative mating and unlinked loci) the population maintains this disequilibrium and thus the genotypic structure at the second locus need not tend to Hardy-Weinberg proportions. It turns out that the conditions not only of complete linkage, but also of unlinked loci together with complete assortativity, imply no change in gametic structure from the initial structure.In order to demonstrate the influence of several parameters on the speed of convergence to and the magnitude of the respective limits, several graphs are included. 相似文献
17.
There is a substantial literature on the use of linkage disequilibrium (LD) to estimate effective population size using unlinked loci. The estimates are extremely sensitive to the sampling process, and there is currently no theory to cope with the possible biases. We derive formulae for the analysis of idealised populations mating at random with multi-allelic (microsatellite) loci. The ‘Burrows composite index’ is introduced in a novel way with a ‘composite haplotype table’. We show that in a sample of diploid size , the mean value of or from the composite haplotype table is biased by a factor of , rather than the usual factor for a conventional haplotype table. But analysis of population data using these formulae leads to estimates that are unrealistically low. We provide theory and simulation to show that this bias towards low estimates is due to null alleles, and introduce a randomised permutation correction to compensate for the bias. We also consider the effect of introducing a within-locus disequilibrium factor to , and find that this factor leads to a bias in the estimate. However this bias can be overcome using the same randomised permutation correction, to yield an altered with lower variance than the original , and one that is also insensitive to null alleles. The resulting formulae are used to provide estimates on 40 samples of the Queensland fruit fly, Bactrocera tryoni, from populations with widely divergent expectations. Linkage relationships are known for most of the microsatellite loci in this species. We find that there is little difference in the estimated values from using known unlinked loci as compared to using all loci, which is important for conservation studies where linkage relationships are unknown. 相似文献
18.
In the majority of birds and mammals, social monogamy is not congruent with genetic monogamy. No research to date has compared social and genetic monogamy in amphibians. We analysed paternity in clutches of red-backed salamanders (Plethodon cinereus), a species in which social monogamy has been demonstrated in the laboratory, and 28% of individuals in the forest are found in male-female pairs in the noncourtship season. We collected 16 clutches of eggs of P. cinereus in the southern Appalachian Mountains of Virginia and collected tail clippings from attending mothers. We genotyped embryos and adults at five microsatellite loci in order to analyse paternity of clutches. Most clutches (84.6%) had multiple sires, with two to three sires per clutch. In this study, 25% of clutches had males in addition to females attending eggs. None of the mothers of these clutches were genetically monogamous. All attending males sired some of the offspring in the clutch that they attended (between 9% and 50%) but never sired a majority in that clutch. We conclude that, at least in this population, social monogamy in P. cinereus is not concomitant with genetic monogamy. 相似文献
19.
Introduction
Sex allocation theory predicts that in small mating groups simultaneous hermaphroditism is the optimal form of gender expression. Under these conditions, male allocation is predicted to be very low and overall per-capita reproductive output maximal. This is particularly true for individuals that live in pairs, but monogamy is highly susceptible to cheating by both partners. However, certain conditions favour social monogamy in hermaphrodites. This study addresses the influence of group size on group stability and moulting cycles in singles, pairs, triplets and quartets of the socially monogamous shrimp Lysmata amboinensis, a protandric simultaneous hermaphrodite.Results
The effect of group size was very strong: Exactly one individual in each triplet and exactly two individuals in each quartet were killed in aggressive interactions, resulting in group sizes of two individuals. All killed individuals had just moulted. No mortality occurred in single and pair treatments. The number of moults in the surviving shrimp increased significantly after changing from triplets and quartets to pairs.Conclusion
Social monogamy in L. amboinensis is reinforced by aggressive expulsion of supernumerous individuals. We suggest that the high risk of mortality in triplets and quartets results in suppression of moulting in groups larger than two individuals and that the feeding ecology of L. amboinensis favours social monogamy. 相似文献20.
When a microsatellite locus is duplicated in a diploid organism, a single pair of PCR primers may amplify as many as four distinct alleles. To study the evolution of a duplicated microsatellite, we consider a coalescent model with symmetric stepwise mutation. Conditional on the time of duplication and a mutation rate, both in a model of completely unlinked loci and in a model of completely linked loci, we compute the probabilities for a sampled diploid individual to amplify one, two, three, or four distinct alleles with one pair of microsatellite PCR primers. These probabilities are then studied to examine the nature of their dependence on the duplication time and the mutation rate. The mutation rate is observed to have a stronger effect than the duplication time on the four probabilities, and the unlinked and linked cases are seen to behave similarly. Our results can be useful for helping to interpret genetic variation at microsatellite loci in species with a very recent history of gene and genome duplication. 相似文献