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At least 289 records · Page 16Linked to original sources
PubMed1987

Theory of electrophoresis of hybridizing enzymes with kinetic control: implications for population genetics of electrophoretic markers.

A phenomenological theory of zone electrophoresis has been formulated for reversible, kinetically controlled self-dimerization and hybridization of proteins. The computed electrophoretic patterns simulate many of the observed features of certain Drosophila enzymes. The patterns for rapid self-dimerization show a unimodal reaction zone over a wide range of rates of dissociation of the dimer, the migration velocity increasing with increasing rate of dissociation. Those for slow rates of both dimerization and dissociation are bimodal reaction zones exhibiting a peak composed largely of dimer and one largely of monomer separated by a low plateau. The nature of the pattern for hybridization of two dimerizing variants of a polymorphic protein is strikingly dependent upon the rates of reaction. For rapid association and very slow dissociation the pattern exhibits three zones corresponding to the two homodimers and the heterodimer. Very rapid rates of dissociation give two monomer zones. Intermediate rates of dissociation also give two zones, but here they are uncoupled reaction zones; each corresponds to an interconverting mixture of one of the homodimers and its monomer, the heterodimer having dissociated completely during early stages of electrophoresis. The transition from a three-zone pattern to this two-zone pattern has been examined in detail, and a mechanism is given. Practical implications are considered.

Animals↗
PubMed1998

Flowering plant self-incompatibility: the molecular population genetics of Brassica S-loci.

Self-incompatibility systems in different angiosperm families are reviewed, and the evidence that incompatibility has arisen several times is outlined. New data on the sequence polymorphism of self-incompatibility loci from two different angiosperm families are compared with results from other highly polymorphic loci, particularly MHC loci. We discuss what molecular genetic analyses of these sequences can tell us about the nature and maintenance of the polymorphism at self-incompatibility loci. We suggest that there is evidence for recombination at the Brassica self-incompatibility loci, so that it may be possible to discern regions that are particularly functionally important in the recognition reaction, even though the long-term maintenance of polymorphisms in these amino acid residues has caused the evolution of many other sequence differences between alleles.

Alleles↗
PubMed1993

A class of population genetic questions formulated as the generalized occupancy problem.

In categorical genetic data analysis when the sampling units are classified into an arbitrary number of distinct classes, sometimes the sample size may not be large enough to apply large sample approximations for hypothesis testing purposes. Exact sampling distributions of several statistics are derived here, using combinatorial approaches parallel to the classical occupancy problem to help overcome this difficulty. Since the multinomial probabilities can be unequal, this situation is described as a generalized occupancy problem. The sampling properties derived are used to examine nonrandomness of occurrence of mutagen-induced mutations across loci, to devise tests of Hardy-Weinberg proportions of genotype frequencies in the presence of a large number of alleles, and to provide a global test of gametic phase disequilibrium of several restriction site polymorphisms.

Genetics, Population↗
PubMed1973

Population genetics of marine pelecypods. 3. Epistasis between functionally related isoenzymes of Mytilus edulis.

The distribution of interlocus genotypic combinations was examined in Mytilus edulis for interdependence between two loci synthesizing functionally related isoenzymes. There is significant dependence between the Leucine Aminopeptidase and Aminopeptidase loci, which we attribute to epistasis, since the magnitude of dependency varies with age. Furthermore, dependency varies in magnitude with position in the intertidal zone from which samples were taken, suggesting that epistasis is a function of the combination of certain non-homologous alleles as well as of the environmental circumstance in which the combinations occur.

Alleles↗
PubMed2006

Inference of population genetic parameters in metagenomics: a clean look at messy data.

Metagenomic projects generate short, overlapping fragments of DNA sequence, each deriving from a different individual. We report a new method for inferring the scaled mutation rate, theta = 2Neu, and the scaled exponential growth rate, R = Ner, from the site-frequency spectrum of these data while accounting for sequencing error via Phred quality scores. After obtaining maximum likelihood parameter estimates for theta and R, we calculate empirical Bayes quality scores reflecting the posterior probability that each apparently polymorphic site is truly polymorphic; these scores can then be used for other applications such as SNP discovery. For realistic parameter ranges, analytic and simulation results show our estimates to be essentially unbiased with tight confidence intervals. In contrast, choosing an arbitrary quality score cutoff (e.g., trimming reads) and ignoring further quality information during inference yields biased estimates with greater variance. We illustrate the use of our technique on a new project analyzing activated sludge from a lab-scale bioreactor seeded by a wastewater treatment plant.

Bacteria↗
PubMed2004

Population genetics of polymorphism and divergence for diploid selection models with arbitrary dominance.

We develop a Poisson random-field model of polymorphism and divergence that allows arbitrary dominance relations in a diploid context. This model provides a maximum-likelihood framework for estimating both selection and dominance parameters of new mutations using information on the frequency spectrum of sequence polymorphisms. This is the first DNA sequence-based estimator of the dominance parameter. Our model also leads to a likelihood-ratio test for distinguishing nongenic from genic selection; simulations indicate that this test is quite powerful when a large number of segregating sites are available. We also use simulations to explore the bias in selection parameter estimates caused by unacknowledged dominance relations. When inference is based on the frequency spectrum of polymorphisms, genic selection estimates of the selection parameter can be very strongly biased even for minor deviations from the genic selection model. Surprisingly, however, when inference is based on polymorphism and divergence (McDonald-Kreitman) data, genic selection estimates of the selection parameter are nearly unbiased, even for completely dominant or recessive mutations. Further, we find that weak overdominant selection can increase, rather than decrease, the substitution rate relative to levels of polymorphism. This nonintuitive result has major implications for the interpretation of several popular tests of neutrality.

Computer Simulation↗
PubMed2000

Population genetics of HPRTB, F13B, and LPL in Pernambuco, Northeast Brazil.

One hundred thirty-four unrelated Northeast Brazilian individuals were typed for the HPRTB, F13B, and LPL short tandem repeats (STRs). DNA was amplified by specific primers and identified by silver staining of polyacrylamide gels. The allelic frequencies of these loci were in agreement with Hardy-Weinberg proportions. The most frequent alleles were HPRTB*13, F13B*10, LPL*10. The combined probability of paternity and the discrimination power of these 3 STRs were high, permitting their utilization for forensic science purposes.

Brazil↗
PubMed1998

Human orosomucoid (ORM1) subtyping: further population genetic data and reports on the feasibility to type aged blood samples and stains.

Genetic polymorphism of serum orosomucoid (ORM1) was investigated in 1072 unrelated German Caucasians using isoelectric focusing followed by Western blotting and EIA. The estimated allele frequencies were ORM1 *F1 = 0.5690, ORM1 *S = 0.3927, ORM1 *F2 = 0.0368, ORM1 *F2S = 0.0009 and ORM1 *F5 = 0.0005. The method was successfully applied to determine ORM1 phenotypes in aged blood samples and blood stains. The results indicated that the ORM protein is a informative and remarkably robust blood group system.

Alleles↗
PubMed2005

Population genetic analysis and sub-structuring of Theileria parva in Uganda.

In recent years the population structures of many apicomplexan parasites including Plasmodium spp., Toxoplasma gondii and Cryptospordium parvum have been elucidated. These species show a considerable diversity of population structure suggesting different strategies for transmission and survival in mammalian hosts. We have undertaken a population genetic analysis of another apicomplexan species (Theileria parva) to investigate the levels of diversity of this parasite and the role of genetic exchange in three geographically separate populations. The principal hindrance to carrying out such a study on field isolates was the high proportion of blood samples that contain multiple genotypes, making it impossible to determine the genotypes of the parasites directly. This problem was overcome by sampling only young indigenous calves between 3 and 9 months of age in which approximately 60% of the T. parva infected calves contained a single/predominant allele at each locus, making it possible to undertake population genetic analyses. Blood samples were collected from calves in three geographically distinct regions of Uganda and were analysed using 12 polymorphic mini and microsatellite markers that were evenly dispersed across the four chromosomes. We have identified 84 multilocus genotypes (MLG) from these samples, indicating high levels of diversity in the parasite. Analysis of linkage disequilibrium between pairs of loci provides evidence that the population in Lira district had an epidemic structure. The population in Mbarara was substructured containing two genetically distinct sub-groups and the larger sub-group also had an epidemic population structure. The population from Kayunga was in linkage disequilibrium. Genetic distances and Wrights fixation index (F(ST)) indicate that there is evidence for geographical sub-structuring between the Lira and the Kayunga populations.

Alleles↗
PubMed1988

[Parametric identification of mathematical models of population genetics taking into account the geographical dispersion in finite samples].

A method for parameter identification of population genetics' mathematical models, taking account of geographical disperse at limited samples of experimental data on mutant frequency values has been developed. The existence of the MLS (method of the least squares) estimations of the models' parameters studied has been proved, zero approach of the looked for estimations found and the iterative procedure of making them precise shown. A means of building up the a posteriori function of probability density of the zero and following approximations of the models' parameters is pointed out. The possibility of application of the proposed method to find estimations of mathematical models' parameters of population genetics, taking account of geographical disperse, has been shown on the particular example.

Animals↗