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PubMed1998

Mental retardation in Norway: prevalence and sub-classification in a cohort of 30037 children born between 1980 and 1985.

OBJECTIVES: We wanted to determine the prevalence and subcategories of mental retardation (MR) defined as IQ < or = 70 in Akershus county, which rated by average yearly income, had the second highest socioeconomic status (SES) in Norway. METHODS: The study population consisted of 30 037 children born between 1980 and 1985. Cases were ascertained from multiple sources and psychometrically assessed, predominantly with the Wechsler tests, which were standardized in Norway in 1978. The cases were divided into four groups: profound (IQ < 20), severe (IQ 20-34), moderate (IQ 35-49), and mild (IQ 50-70) MR, according to the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV). The median age was 10.8 y. The frequency and degree of parental consanguinity were registered, and the average inbreeding coefficient was calculated. RESULTS: Altogether, 185 had IQ < or = 70, giving a prevalence of MR of 6.2/1000. Prevalences for profound, severe, moderate, and mild MR were 0.8, 0.4, 1.5 and 3.5/1000, respectively. In two, possibly three, cases the parents were second cousins, giving an average inbreeding coefficient of 20-30 x 10(-5). CONCLUSIONS: The low prevalence of MR, particularly mild MR, could partly be explained by high SES, old standardization of IQ-test, and low inbreeding coefficient. The proportion of profound MR was considerably higher than estimated by DSM-IV.

Adolescent↗
PubMed2006

Genetic diversity and the reproductive system in related species of antirrhinum.

BACKGROUND AND AIMS: Seven related species of Antirrhinum (A. siculum, A. majus, A. latifolium, A. linkianum, A. litigiosum, A. cirrhigherum and A. tortuosum) were studied in order to compare levels of genetic variation and its partitioning in them, and to check relationships between genetic patterns and the reproductive system. METHODS: Eight hundred and fifty-one plants were screened for variability at 13 allozyme loci by means of horizontal starch gel electrophoresis. Parameters of genetic diversity and its partitioning, the inbreeding coefficient as well as an indirect estimate of gene flow based on the equation: Nm = (1 - G(ST))/4G(ST), were calculated. KEY RESULTS: Genetic variability in A. siculum was found to be the lowest known in the genus. Mean values of F(IT) and F(IS) were mostly positive and not significantly different from zero. Population differentiation (F(ST)) ranged between 6.1 in A. tortuosum and 17.6 in A. linkianum. The inbreeding coefficient within populations ranged between F(IS) = -0.5 in A. tortuosum and F(IS) = 1 in A. siculum. Estimates of gene flow ranged between Nm = 15 in A. majus (considered as very high) to Nm = 0.42 in A. siculum (considered as low). CONCLUSIONS: Correlation was found between levels of diversity and differentiation on one hand, and the reproductive system of the studied taxa on the other. Striking differences among species in the inbreeding coefficient (F(IS)) show different reproductive systems, which mostly support previous reports. Strategies for the conservation of A. siculum are recommended, such as preservation of natural populations as well as ex situ preservation of seeds from different populations.

Antirrhinum↗
PubMed2007

Mating system of Brazilian Oryza glumaepatula populations studied with microsatellite markers.

BACKGROUND AND AIMS: A knowledge of natural populations' breeding systems is important in order to implement in situ and ex situ management and conservation practices. Using microsatellite markers, three Oryza glumaepatula populations from Brazil were studied to determine the breeding system and genetic structure parameters of this species. METHODS: Each population represented by ten families with ten individuals per family was studied using eight microsatellite primers. Families of the Rio Xingu population (XI) were obtained from the greenhouse, whereas families from Rio Solimoes (SO) and Rio Paraguay (PG) were collected from the wild. Amplified products electrophoresed on non-denaturing polyacrylamide gels were visualized with a silver staining procedure. The mating system parameters were analysed based on the mixed mating model (software MLTR) while genetic structure analyses of the three populations and their families were performed using the FSTAT software. KEY RESULTS: The mean numbers of alleles per loci were 2.5, 3.9 and 2.5, respectively for the XI, PG and SO populations. Compared with their families, higher values for the observed heterozygosity and gene diversity were estimated for the parental populations. The subdivision (based on R(ST)) and inbreeding (F(IS)) in the SO and PG populations had similar effects, while inbreeding was the main effect in the families. Multilocus outcrossing rates varied from 0.011 to 0.223 in the three populations, indicating divergence in the outcrossing rates among O. glumaepatula populations. For the species (considering SO and PG populations together) an intermediate value was observed (tm = 0.116). Biparental inbreeding varied from 0.008 to 0.123, contributing to the selfing rate in these populations. More than 50 % of the outcrossing occurred between related individuals. CONCLUSIONS: The results indicated divergence in the mating system among O. glumaepatula populations, with consequences for conservation practices. The mating system of this species was classified as mixed with a predominance of self-fertilization.

Brazil↗
PubMed1993

Effective sizes for subdivided populations.

Many derivations of effective population sizes have been suggested in the literature; however, few account for the breeding structure and none can readily be expanded to subdivided populations. Breeding structures influence gene correlations through their effects on the number of breeding individuals of each sex, the mean number of progeny per female, and the variance in the number of progeny produced by males and females. Additionally, hierarchical structuring in a population is determined by the number of breeding groups and the migration rates of males and females among such groups. This study derives analytical solutions for effective sizes that can be applied to subdivided populations. Parameters that encapsulate breeding structure and subdivision are utilized to derive the traditional inbreeding and variance effective sizes. Also, it is shown that effective sizes can be determined for any hierarchical level of population structure for which gene correlations can accrue. Derivations of effective sizes for the accumulation of gene correlations within breeding groups (coancestral effective size) and among breeding groups (intergroup effective size) are given. The results converge to traditional, single population measures when similar assumptions are applied. In particular, inbreeding and intergroup effective sizes are shown to be special cases of the coancestral effective size, and intergroup and variance effective sizes will be equal if the population census remains constant. Instantaneous solutions for effective sizes, at any time after gene correlation begins to accrue, are given in terms of traditional F statistics or transition equations. All effective sizes are shown to converge upon a common asymptotic value when breeding tactics and migration rates are constant. The asymptotic effective size can be expressed in terms of the fixation indices and the number of breeding groups; however, the rate of approach to the asymptote is dependent upon dispersal rates. For accurate assessment of effective sizes, initial, instantaneous or asymptotic, the expressions must be applied at the lowest levels at which migration among breeding groups is nonrandom. Thus, the expressions may be applicable to lineages within socially structured populations, fragmented populations (if random exchange of genes prevails within each population), or combinations of intra- and interpopulation discontinuities of gene flow. Failure to recognize internal structures of populations may lead to considerable overestimates of inbreeding effective size, while usually underestimating variance effective size.

Animals↗
PubMed1996

Estimating long-term mating systems using DNA sequences.

Plant mating systems often involve a mixture of self fertilizations and outcross fertilizations. The degree of selfing has a large impact on the genetic composition of natural populations and on the evolution of the mating system itself in response to such factors as inbreeding depression. This paper describes a means of estimating the long-term rate of self-fertilization from samples of alleles taken from individuals in a population. Use is made of the genealogy of pairs of alleles at a locus within individuals and pairs between individuals. The degree of selfing is closely related to the extent to which the number of nucleotide sites differing within an individual is reduced relative to the number differing between individuals. Importantly, the estimate of long-term selfing is largely independent of population size and is not affected by historical fluctuations in population size; instead it responds directly to the mating system itself. The approach outlined here is most appropriate to evolutionary problems in which the long-term nature of the mating system is of interest, such as to determine the relationship between prior inbreeding and inbreeding depression.

Analysis of Variance↗
PubMed1996

Selection response in finite populations.

Formulae were derived to predict genetic response under various selection schemes assuming an infinitesimal model. Account was taken of genetic drift, gametic (linkage) disequilibrium (Bulmer effect), inbreeding depression, common environmental variance, and both initial segregating variance within families (sigma AW02) and mutational (sigma M2) variance. The cumulative response to selection until generation t(CRt) can be approximated as [equation: see text] where Ne is the effective population size, sigma AW infinity 2 = Ne sigma M2 is the genetic variance within families at the steady state (or one-half the genic variance, which is unaffected by selection), and D is the inbreeding depression per unit of inbreeding. R0 is the selection response at generation 0 assuming preselection so that the linkage disequilibrium effect has stabilized. beta is the derivative of the logarithm of the asymptotic response with respect to the logarithm of the within-family genetic variance, i.e., their relative rate of change. R0 is the major determinant of the short term selection response, but sigma Me2 Ne and beta are also important for the long term. A selection method of high accuracy using family information gives a small Ne and will lead to a larger response in the short term and a smaller response in the long term, utilizing mutation less efficiently.

Animals↗
PubMed1997

Effective size and F-statistics of subdivided populations. I. Monoecious species with partial selfing.

Assuming discrete generations and autosomal inheritance involving genes that do not affect viability or reproductive ability, we have derived recurrence equations for the inbreeding coefficient and coancestry between individuals within and among subpopulations for a subdivided monoecious population with arbitrary distributions of male and female gametes per family, variable pollen and seed migration rates, and partial selfing. From the equations, formulas for effective size and expressions for F-statistics are obtained. For the special case of a single unsubdivided population, our equations reduce to the simple expressions derived by previous authors. It is shown that population structure (subdivision and migration) is important in determining the inbreeding coefficient and effective size. Failure to recognize internal structures of populations may lead to considerable bias in predicting effective size. Inbreeding coefficient, coancestry between individuals within and among subpopulations accrue at different and variable rates over initial generations before they converge to the same asymptotic rate of increase. For a given population, the smaller the pollen and seed migration rates, the more generations are required to attain the asymptotic rate and the larger the asymptotic effective size. The equations presented herein can be used for the study of evolutionary biology and conservation genetics.

Biological Evolution↗
PubMed2003

No reason for a reduction in the number of offspring per sperm donor because of possible transmission of autosomal dominant diseases.

A limit of 25 offspring per sperm donor has been imposed in The Netherlands since 1992, in order to prevent children from donors having a greater risk of consanguineous relationships than would occur in random individuals. An incident with a donor who developed a serious hereditary brain disease raised the question whether the limit of 25 should be reduced. Here I consider this suggestion from a genetic, psychological and legal standpoint. There appears to be no valid population genetics argument for limiting the number of donor offspring to below the figure that would prevent an increased chance of inbreeding. Reduction of the number of children per donor theoretically only results in transmission of greater diversity to donor offspring. Moreover, as within the general population, the total number of children conceived from sperm donors is negligible, the impact of donor offspring on the population genetics is anyhow insignificant. From a psychological standpoint, it should be noted that individuals making use of a donor, or their offspring, have no knowledge of other offspring conceived with their particular donor. This implies that the number of offspring per donor is of no relevance to them (provided of course there is an acceptably low chance of inbreeding). The new Dutch law on disclosure of donor identity to donor-insemination children, also produces no compelling reasons for a general reduction in the number of offspring per donor. Reduction desired by individual donors can be obtained by means of mutual agreements between sperm banks and donors. In conclusion neither the possible transmission of late-onset autosomal dominant diseases, nor other considerations necessitate a reduction in the offspring limit calculated to prevent increased risks of inbreeding among donor offspring.

Consanguinity↗
PubMed2005

A first assessment of genetic variation among Morchella esculenta (morel) populations.

Habitat loss and fragmentation have serious consequences for species diversity as well as genetic diversity within a species. As the most sought-after culinary fungus in the Midwest United States, morels (Morchella esculenta and related species) demand the attention of conservationists interested in preserving biological and genetic diversity. Little is known about the natural history of M. esculenta, which is critical information for understanding population dynamics as well as the impacts of habitat fragmentation and harvesting. We report initial results from our long-term studies of genetic variability among fruiting bodies at the Conard Environmental Research Area at Grinnell College, Grinnell, Iowa. Using random amplified polymorphic DNA-polymerase chain reaction (RAPD-PCR), a technique that has been successfully used to examine intrapopulation structure and detect clonal populations in numerous fungi, we found substantially higher levels of genetic polymorphism among 57 fruiting bodies than has been previously reported. Though laboratory studies indicate that the inbreeding potential for this fungus is high, we found little evidence for inbreeding, with only two pairs of the randomly chosen isolates having identical genotypes at the 34 loci examined. This work highlights the importance of further attempts to resolve important aspects of the morel life cycle regarding heterokaryosis and inbreeding potential.

Ascomycota↗
PubMed2000

Population bottlenecks and Pleistocene human evolution.

We review the anatomical and archaeological evidence for an early population bottleneck in humans and bracket the time when it could have occurred. We outline the subsequent demographic changes that the archaeological evidence of range expansions and contractions address, and we examine how inbreeding effective population size provides an alternative view of past population size change. This addresses the question of other, more recent, population size bottlenecks, and we review nonrecombining and recombining genetic systems that may reflect them. We examine how these genetic data constrain the possibility of significant population size bottlenecks (i.e., of sufficiently small size and/or long duration to minimize genetic variation in autosomal and haploid systems) at several different critical times in human history. Different constraints appear in nonrecombining and recombining systems, and among the autosomal loci most are incompatible with any Pleistocene population size expansions. Microsatellite data seem to show Pleistocene population size expansions, but in aggregate they are difficult to interpret because different microsatellite studies do not show the same expansion. The archaeological data are only compatible with a few of these analyses, most prominently with data from Alu elements, and we use these facts to question whether the view of the past from analysis of inbreeding effective population size is valid. Finally, we examine the issue of whether inbreeding effective population size provides any reasonable measure of the actual past size of the human species. We contend that if the evidence of a population size bottleneck early in the evolution of our lineage is accepted, most genetic data either lack the resolution to address subsequent changes in the human population or do not meet the assumptions required to do so validly. It is our conclusion that, at the moment, genetic data cannot disprove a simple model of exponential population growth following a bottleneck 2 MYA at the origin of our lineage and extending through the Pleistocene. Archaeological and paleontological data indicate that this model is too oversimplified to be an accurate reflection of detailed population history, and therefore we find that genetic data lack the resolution to validly reflect many details of Pleistocene human population change. However, there is one detail that these data are sufficient to address. Both genetic and anthropological data are incompatible with the hypothesis of a recent population size bottleneck. Such an event would be expected to leave a significant mark across numerous genetic loci and observable anatomical traits, but while some subsets of data are compatible with a recent population size bottleneck, there is no consistently expressed effect that can be found across the range where it should appear, and this absence disproves the hypothesis.

Animals↗
PubMed1999

The effect of using different culling regimens on genetic response with two-trait, two-stage selection in a nucleus broiler stock.

Stochastic simulation was used to study the effect on genetic response and inbreeding of various two-stage two-trait culling strategies. Four different parameter sets were considered for the two traits, BW and egg number. Selection of replacement animals was based on animal model best linear unbiased prediction (BLUP) to obtain estimated breeding values (EBV) at the second stage. Culling at Stage 1 was based on either animal model BLUP or phenotypes, and information from culled animals was either available or not available for calculation of second stage EBV. Besides founder individuals, six discrete generations were considered. Culling based on BLUP of two traits at Stage 1 produced higher response than culling on phenotypic evaluations. It was found that culling based on phenotypic evaluation and not carrying information to the second stage reduce rates of response by 9 to 17% and produced inbreeding higher than or close to that of BLUP selection. This study clearly shows that a double penalty of less response and higher inbreeding is generally paid for not using all information. Optimum selection schemes will depend on relative costs and benefits of collecting and processing the extra information required for full BLUP selection schemes.

Animals↗
PubMed1997

Multigenic drug resistance among inbred malaria parasites.

Recent population genetic studies on the malaria parasite Plasmodium falciparum have confirmed that selfing is more frequent where the transmission rate is lower, with inbreeding coefficients estimated to be 0.33 and 0.92 for sites in Tanzania and Papua New Guinea (PNG), respectively. These geographical differences in Plasmodium mating patterns have been linked to the rate of spread of chloroquine resistance CQR, which, according to some measures, has been slower in Tanzania than in PNG. It has been proposed that the former observation explains the latter, although the theoretical argument linking the two is based on limited simulation studies. Taking a more analytical approach here, we first establish the relevant relationship between the coefficient of inbreeding (F, within loci) and the recombination rate r, between loci, defining an 'effective recombination rate', r = r (1-F. We then show that the emergence of multigenic drug resistance can indeed be slowed (or even quickened) by more outcrossing, but only when resistance is determined by two or more genes, none of which independently confers significant protection. The resistance genes should both be initially rare, and subject to low selection pressure. The analysis does not completely discount the hypothesis that inbreeding significantly influences the spread of CQR, but we show that it can only do so under a restrictive set of conditions, and that these conditions are not satisfied by some laboratory and field data. We discuss some of the wider implications of these results for the evolution of multigenic resistance.

Animals↗
PubMed2002

Eusociality in African mole-rats: new insights from patterns of genetic relatedness in the Damaraland mole-rat (Cryptomys damarensis).

After the discovery of eusociality in the naked mole-rat, it was proposed that inbreeding and high colony relatedness in this species were the major underlying factors driving cooperative breeding in African molerats. By contrast, field and laboratory studies of the eusocial Damaraland mole-rat (Cryptomys damarensis) have raised the possibility that this species is an obligate outbreeder, although the build-up of inbreeding over several generations could still occur. Using microsatellite markers, we show that most breeding pairs in wild colonies of the Damaraland mole-rat are indeed unrelated (R = 0.02 +/- 0.04) and that mean colony relatedness (R = 0.46 +/- 0.01), determined across 15 colonies from three separate populations, is little more than half that previously identified in naked mole-rats. This finding demonstrates that normal familial levels of relatedness are sufficient for the occurrence of eusociality in mammals. Variation in the mean colony relatedness among populations provides support both for the central role played by ecological constraints in cooperative breeding and for the suggestion that inbreeding in naked mole-rats is a response to extreme constraints on dispersal. Approaches that determine the relative importance of an array of extrinsic factors in driving social evolution in African mole-rats are now required.

Animals↗
PubMed2002

The evolution and maintenance of monoecy and dioecy in Sagittaria latifolia (Alismataceae).

Plant species rarely exhibit both monoecious and dioecious sexual systems. This limits opportunities to investigate the consequences of combined versus separate sex function on mating patterns and genetic variation and the analysis of factors responsible for the evolution and maintenance of the two sexual systems. Populations of the North American clonal aquatic Sagittaria latifolia are usually either monoecious or dioecious and often grow in close geographic proximity. We investigated mating patterns, genetic structure, and relationships between the two sexual systems using allozyme variation in populations from southern Ontario, Canada. As predicted, selfing rates in monoecious populations (n = 6, mean = 0.41) were significantly higher than in dioecious populations (n = 6, mean = 0.11). Moreover, marker-based estimates of inbreeding depression (delta) indicated strong selection against inbred offspring in both monoecious (mean delta = 0.83) and dioecious (mean delta = 0.84) populations. However, the difference in selfing rate between the sexual systems was not reflected in contrasting levels of genetic variation. Our surveys of 12 loci in 15 monoecious and 11 dioecious populations revealed no significant differences in the proportion of polymorphic loci (P), number of alleles per locus (A), or observed and expected heterozygosity (H(o) and H(e), respectively). Strong inbreeding depression favoring survival of outcrossed offspring may act to maintain similar levels of diversity between monoecious and dioecious populations. Despite geographical overlap between the two sexual systems in southern Ontario, a dendrogram of genetic relationships indicated two distinct clusters of populations largely corresponding to monoecious and dioecious populations. Reproductive isolation between monoecious and dioecious populations appears to be governed, in part, by observed differences in habitat and life history. We suggest that selfing and inbreeding depression in monoecious populations are important in the transition from monoecy to dioecy and that the maintenance of distinct sexual systems in S. latifolia is governed by interactions between ecology, life history, and mating.

Biological Evolution↗
PubMed2002

Lethals in finite populations.

It has been assumed, based on theoretical studies, that lethals with the level of dominance estimated from experimental studies would have an allele frequency that is virtually independent of effective population size. However, here it is shown numerically that the expected frequency of lethals with low levels of dominance is also dependent on finite population size, although not as much as completely recessive lethals. This finding is significant in determining the standing level of inbreeding depression and the consequent potential for the evolution of self-fertilization. In addition, the architecture of genetic variation influencing inbreeding depression in populations with a history of small size may be of important consequence in endangered species. Finally, it is shown that the loss of lethal genetic variation often occurs much more quickly than the regeneration of lethal variation by mutation. This asymmetry may result in a lower standing genetic variation for inbreeding depression than expected from mutation rates and contemporary population size data.

Animals↗
PubMed2003

Quantifying gene flow from spatial genetic structure data in a metapopulation of Chamaecrista fasciculata (Leguminosae).

An extensive allozyme survey was conducted within a natural "meta" population of the native North American annual legume, Chamaecrista fasciculata (Leguminosae) to quantify genetic structure at different spatial scales. Gene flow was then estimated by a recently developed indirect method based on a continuous population model, using pairwise kinship coefficients between individuals. The indirect estimates of gene flow, quantified in terms of neighborhood size, with an average value on the order of 150 individuals, were concordant among different spatial scales (subpopulation, population, metapopulation). This gene-flow value lies within the range of direct estimates previously documented from observations of pollen and seed dispersal for the same metapopulation. Monte Carlo simulations using the direct measures of gene flow as parameters further demonstrated that the observed spatial pattern of allozyme variation was congruent with a model of isolation by distance. Combining previously published estimates of pollen dispersal distances with kinship coefficients from this study, we quantified biparental inbreeding relative to either a single subpopulation or the whole metapopulation. At the level of a neighborhood, little biparental inbreeding was observed and most departure from Hardy-Weinberg genotypic proportions was explained by self-fertilization, whereas both selfing and biparental inbreeding contributed to nonrandom mating at the metapopulation level. Gene flow was also estimated from indirect methods based on a discontinuous population structure model. We discuss these results with respect to the effect of a patchy population structure on estimation of gene flow.

Chamaecrista↗
PubMed2005

Molecular evidence for multiple introductions of garlic mustard (Alliaria petiolata, Brassicaceae) to North America.

Invasive species offer excellent model systems for studying rapid evolutionary change. In this context, molecular markers play an important role because they provide information about pathways of introduction, the amount of genetic variation introduced, and the extent to which founder effects and inbreeding after population bottlenecks may have contributed to evolutionary change. Here, we studied microsatellite variation in eight polymorphic loci among and within 27 native and 26 introduced populations of garlic mustard (Alliaria petiolata), a European herb which is a current serious invader in North American deciduous forests. Overall, introduced populations were genetically less diverse. However, considerable variability was present and when compared to the probable source regions, no bottleneck was evident. Observed heterozygosity was very low and resulted in high inbreeding coefficients, which did not differ significantly between native and introduced populations. Thus, selfing seems to be equally dominant in both ranges. Consequently, there was strong population differentiation in the native (F(ST) = 0.704) and the introduced (F(ST) = 0.789) ranges. The high allelic diversity in the introduced range strongly suggests multiple introductions of Alliaria petiolata to North America. Out of six European regions, the British Isles, northern Europe, and central Europe had significantly higher proportions of alleles, which are common to the introduced range, and are therefore the most probable source regions. The genetic diversity established by multiple introductions, and the lack of inbreeding depression in this highly selfing species, may have contributed to the invasion success of Alliaria petiolata.

Analysis of Variance↗
PubMed2006

Seasonal changes in pollinator activity influence pollen dispersal and seed production of the alpine shrub Rhododendron aureum (Ericaceae).

In alpine ecosystems, microscale variation in snowmelt timing often causes different flowering phenology of the same plant species and seasonal changes in pollinator activity. We compared the variations in insect visitation, pollen dispersal, mating patterns, and sexual reproduction of Rhododendron aureum early and late in the flowering season using five microsatellites. Insects visiting the flowers were rare early in the flowering season (mid-June), when major pollinators were bumblebee queens and flies. In contrast, frequent visitations by bumblebee workers were observed late in the season (late July). Two-generation analysis of pollen pool structure demonstrated that quality of pollen-mediated gene flow was more diverse late in the season in parallel with the high pollinator activity. The effective number of pollen donors per fruit (N(ep)) increased late in the season (N(ep) = 2.2-2.7 early, 3.4-4.4 late). However, both the outcrossing rate (t(m)) and seed-set ratio per fruit were smaller late in the season (t(m) = 0.89 and 0.71, seed-set ratio = 0.52 and 0.18, early and late in the season, respectively). In addition, biparental inbreeding occurred only late in the season. We conclude that R. aureum shows contrasting patterns of pollen movement and seed production between early and late season: in early season, seed production can be high but genetically less diverse and, during late season, be reduced, possibly due to higher inbreeding and inbreeding depression, but have greater genetic diversity. Thus, more pollinator activity does not always mean more pollen movement.

Animals↗