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Understanding the population genetic structure is a prerequisite for conservation of a species. The degree of genetic variability characteristic of the mitochondrial DNA control region has been widely exploited in studies of population genetic structure and can be useful in identifying meaningful population subdivisions. To estimate the genetic profile of the Yangtze finless porpoise (Neophocaena phocaenoides asiaeorientalis), an endangered freshwater population endemic to China, the complete mtDNA control region was examined in 39 individuals belonging to seven different stocks inhabiting the middle and lower reaches of the Yangtze River. Very low genetic diversity was found (nucleotide diversity 0.0011 +/- 0.0002 and haplotypic diversity 0.65 +/- 0.05). The mtDNA genetic pattern of the Yangtze population appears to indicate a founder event in its evolutionary history and to support the marine origin for this population. Analyses by Fst and phi(st) yielded statistically significant population genetic structure (Fst = 0.44, P < 0.05; phi(st) = 0.36, P < 0.05). These results may have significant implications for the management and conservation of the Yangtze finless porpoise in the future.
A general mathematic model of population genetic equilibrium about one locus was constructed based on the maximum entropy principle by WANG Xiao-Long et al. They proved that the maximum solve of the model was just the frequency distribution that a population reached Hardy-Weinberg genetic equilibrium. It can suggest that a population reached Hardy-Weinberg genetic equilibrium when the genotype entropy of the population reached the maximal possible value, and that the frequency distribution of the maximum entropy was equivalent to the distribution of Hardy-Weinberg equilibrium law about one locus. They further assumed that the frequency distribution of the maximum entropy was equivalent to all genetic equilibrium distributions. This is incorrect, however. The frequency distribution of the maximum entropy was only equivalent to the distribution of Hardy-Weinberg equilibrium with respect to one locus or several limited loci. The case with regard to limited loci was proved in this paper. Finally we also discussed an example where the maximum entropy principle was not the equivalent of other genetic equilibria.
Population genetics of multi-host pathogens offers great potential for the understanding of their complex epidemiology but care must be taken to ensure that the sampling procedure does not bias estimates of population indices. The transfer of material to laboratory passage, in particular, runs the risk of bottlenecking and imposing non-random host-induced selection pressures according to the hosts used in passage. We present a novel technique allowing single-locus microsatellite genotyping of the naturally sampled larval stages, enabling unbiased population genetic studies of the multi-host zoonotic parasite Schistosoma japonicum. The utility of these larval genotyping methods for molecular epidemiological studies are illustrated in results from 3 separate data sets. In the first data set, potential loss of alleles based on the definitive host species used for laboratory maintenance was identified by comparing adult worm populations derived from mice and rabbits infected with cercarial populations originating from the same set of snails. In the second data set, bottlenecking was demonstrated by the loss of alleles in adult worms derived within a single generation of laboratory maintenance compared to their parent field-collected cercarial samples. In the final data set, comparison of miracidia and adult worms recovered from naturally infected animals demonstrated that larval analyses can provide stage-specific epidemiological information and that population genetics of schistosomes can be well described by analysis of larval stages. Our results thus advocate the use of natural life-cycle stages to obtain an accurate and ethical representation of the population genetic structure of S. japonicum and other multi-host pathogens.
We present data on the population genetics of cystic fibrosis (CF) in Bulgaria, obtained by comprehensive mutation analysis and the construction of intragenic microsatellite haplotypes. The sample of 262 CF alleles analysed is representative of the patients diagnosed during the period of referral and of the three main ethnic groups in the country. deltaF508 accounted for 100% of Gypsy CF alleles, which thus differed significantly from both Bulgarians and ethnic Turks. In Bulgarian and Turkish CF patients, 92% of the mutant alleles were identified, yielding a total of 25 different mutations, of which only 7 occurred at frequencies higher than 1%. The findings were compared to other European populations and to the distribution of phenylketonuria mutations. Genetic distances and population trees demonstrated that in the south-eastern tip of Europe, the overall distribution of CF mutations and polymorphic haplotypes is very close to that of Mediterranean populations, with a high frequency of N1303K and G542X, a large number of rare mutations and a prevalence of the 23 31 13 haplotype in association with deltaF508. These findings are consistent with a main role for the Neolithic expansion in the shaping of the CF mutation spectrum in Bulgaria and southern Europe.
The genetic composition of present day human populations is determined largely by the interaction between the human host and infective agents. Therefore, theoretical analysis of the host-infective-agent system is required in order for us to be able to understand human evolution. Classical population genetics has been confined largely to analysing the interplay of various mechanisms, such as selection, mutation and drift, in one species at a time. Unfortunately, there have been few studies of such interactive systems. In the present investigation, these studies have been enlarged, with problems of human genetics in mind, by mathematical examination of a model in which a diploid host with three alleles interacts with a haploid infective agent with two alleles. The results are compared with those obtained from simpler models analysed in the past. The assumptions inherent in such "gene for gene" models and our results are discussed. An increase in the number of alleles appears to enhance the chances for the establishment of permanent genetic polymorphisms, improving genetic "elasticity" of a population for coping with changing challenges by various infective agents. Interaction between two haploid species leads to a loss of polymorphism in both of them and, hence, to a severe loss of evolutionary elasticity. The hypothesis that the evolution of diploidy might have been favoured by a selective advantage of diploid organisms interacting with environmental challenges, such as infective agents, is supported.
GELSTATS, a computer program for population genetics analyses utilizing genetic markers revealed with variable number tandem repeat (VNTR) multilocus probes, is described and made available (both as C++ source code and as an executable DOS program). The program calculates several population genetics parameters, including: (i) individual and population band numbers; (ii) population bands exhibiting complete linkage (redundant examples of such bands can be removed in subsequent analyses); (iii) similarity (fraction of bands shared) between individuals and average similarity within and between designated groups; (iv) estimated probability that two individuals chosen at random will have identical band profiles; (v) heterozygosity estimates for designated groups; and (vi) Fst estimates. Nonparametric permutation methods are used to assess the significance of differences in both within- and between-group similarity. A jackknife test for heterozygosity differences between groups is also computed. Examples of GELSTATS analyses illustrate some features of the program.
Genetic variation in stable fly, Stomoxys calcitrans (L.), populations from Nebraska, Canada, and Texas was sampled. Four of 12 allozyme loci were polymorphic, with an average of 1.7 alleles per locus. Observed and expected heterozygosities were 0.086 and 0.070, respectively. Nei's genetic distance between populations averaged 0.001 and ranged from 0.000 to 0.005. Wright's F statistics revealed greater variation within than among populations. Allele frequencies were homogeneous among temporal samples from a single population. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis of 6.4 kb of the mitochondrial DNA genome with 16 restriction enzymes revealed no variation in stable fly populations from Canada, Nebraska, and Texas. PCR-RFLP analysis of a 2.0-kb fragment of the nuclear ribosomal DNA internally transcribed spacer region also revealed no variation. The lack of genetic differentiation among stable fly populations indicates high levels of gene flow among populations. The low levels of variation observed with biochemical and molecular techniques are consistent with a genetic bottleneck during stable fly colonization of North America.
To investigate the population genetic characteristics of VNTR polymorphisms in human populations, we have studied the allele frequency distribution of six VNTR loci (D1S57, RB1, D1S77, D1S61, alpha-globin 5'HVR, D1S76) in three well-defined populations (Kachari of Northeast India; Dogrib Indian of Canada; and New Guinea Highlander of Papua New Guinea). Even though the number of alleles sampled is limited, 48 to 92 alleles per locus per population, significant variation is noticed in the number of alleles per locus for all the populations. Using alternate summary measures, we have observed that genotype distributions at the six VNTR loci apparently conform to their respective Hardy-Weinberg predictions. Multilocus genotype profiles of the individuals in each of the three populations suggest that the VNTR alleles are independently segregating with the exception of the two linked loci D1S76 and D1S77. Lack of fit of all VNTR loci to one particular model of mutational change, either the Infinite Allele Model or the Stepwise Mutation Model, suggests more than one mechanism for production of new VNTR alleles. This study also indicates that increased heterozygosity at VNTR loci in comparison to protein and blood group loci may lead to more accurate estimates of genetic distance.
This is a preliminary report on a 3-year multidisciplinary study of aging among historically and genetically related Mennonite congregations in Kansas and Nebraska. Three aspects of longevity and aging are examined: (1) the relationship of heterozygosity to survivorship using 8 genetic blood group loci, (2) changes in taste sensitivity with age using 14 dilutions of PTC; and (3) life span correlations among parents and offspring during a 100 year period. Heterozygosity was found to be independent of survivorship. No diminution in taste sensitivity to PTC was found with increasing age although a significant difference in PTC taste thresholds was found between males and females. No relationship was found between nontasters and individuals with a history of thyroid disease. Mother's life span was found to correlate more closely with daughter than any other familial correlation.
The need for reproductive assurance during dispersal, along with the pressure of local mate competition, means that the importance of frequent or repeated colonization is implicit in the literature on sexual system evolution. However, there have been few empirical tests of the association between colonization history and sexual system in plants, and none within a single species. Here we use patterns of genetic diversity to provide such a test in the Mercurialis annua species complex, which spans the range of systems from self-compatible monoecy through androdioecy to dioecy. This variation has been hypothesized to result from differing patterns of metapopulation turnover and recolonization. Because monoecy should be favored during colonization, androdioecy and dioecy will be maintained only in regions with low rates of local extinction and recolonization, and these differences should also be reflected in patterns of neutral genetic diversity. We show that monoecious populations of M. annua display lower within-population genetic diversity than androdioecious populations and higher genetic differentiation than dioecious and androdioecious populations, as predicted by metapopulation models. In contrast, regional diversity in M. annua appears to be primarily a product of postglacial range expansion from two refugia in the eastern and western Mediterranean Basin.
Genotyping errors occur when the genotype determined after molecular analysis does not correspond to the real genotype of the individual under consideration. Virtually every genetic data set includes some erroneous genotypes, but genotyping errors remain a taboo subject in population genetics, even though they might greatly bias the final conclusions, especially for studies based on individual identification. Here, we consider four case studies representing a large variety of population genetics investigations differing in their sampling strategies (noninvasive or traditional), in the type of organism studied (plant or animal) and the molecular markers used [microsatellites or amplified fragment length polymorphisms (AFLPs)]. In these data sets, the estimated genotyping error rate ranges from 0.8% for microsatellite loci from bear tissues to 2.6% for AFLP loci from dwarf birch leaves. Main sources of errors were allelic dropouts for microsatellites and differences in peak intensities for AFLPs, but in both cases human factors were non-negligible error generators. Therefore, tracking genotyping errors and identifying their causes are necessary to clean up the data sets and validate the final results according to the precision required. In addition, we propose the outline of a protocol designed to limit and quantify genotyping errors at each step of the genotyping process. In particular, we recommend (i) several efficient precautions to prevent contaminations and technical artefacts; (ii) systematic use of blind samples and automation; (iii) experience and rigor for laboratory work and scoring; and (iv) systematic reporting of the error rate in population genetics studies.
BACKGROUND: A number of recent papers have cast doubt on the applicability of the quasispecies concept to virus evolution, and have argued that population genetics is a more appropriate framework to describe virus evolution than quasispecies theory. RESULTS: I review the pertinent literature, and demonstrate for a number of cases that the quasispecies concept is equivalent to the concept of mutation-selection balance developed in population genetics, and that there is no disagreement between the population genetics of haploid, asexually-replicating organisms and quasispecies theory. CONCLUSION: Since quasispecies theory and mutation-selection balance are two sides of the same medal, the discussion about which is more appropriate to describe virus evolution is moot. In future work on virus evolution, we would do good to focus on the important questions, such as whether we can develop accurate, quantitative models of virus evolution, and to leave aside discussions about the relative merits of perfectly equivalent concepts.
When organisms adapt genetically to one environment, they may lose fitness in other environments. Two distinct population genetic processes can produce ecological specialization-mutation accumulation and antagonistic pleiotropy. In mutation accumulation, mutations become fixed by genetic drift in genes that are not maintained by selection; adaptation to one environment and loss of adaptation to another are caused by different mutations. Antagonistic pleiotropy arises from trade-offs, such that the same mutations that are beneficial in one environment are detrimental in another. In general, it is difficult to distinguish between these processes. We analysed the decay of unused catabolic functions in 12 lines of Escherichia coli propagated on glucose for 20,000 generations. During that time, several lines evolved high mutation rates. If mutation accumulation is important, their unused functions should decay more than the other lines, but no significant difference was observed. Moreover, most catabolic losses occurred early in the experiment when beneficial mutations were being rapidly fixed, a pattern predicted by antagonistic pleiotropy. Thus, antagonistic pleiotropy appears more important than mutation accumulation for the decay of unused catabolic functions in these populations.
Based on the study carried out, we have suggested a populational-genetical model of hereditary polyposes with frequencies of some parameters, such as frequency of mutation, gene's (allele's) frequency, frequency of heterozygotes (general and for separate groups), fertility, fittnes and selection efficiency.