ABSTRACT
Multiple sclerosis is a classic multifactorial disease in which etiology interaction of external factors and structural features of a large number of genes plays an important role. Identifying risk factors for multiple sclerosis and creating an integrated model of pathogenesis are urgent tasks of neurology. Revealing true risk factors is possible only in studies with sufficient statistical power, so with a large amount of samples. We conducted the association study of CD40 gene's polymorphisms and multiple sclerosis among residents of the Russian Federation. The results demonstrated the need to combine data from different researchers in clinical studies to increase the power of the study.
Subject(s)
CD40 Antigens/genetics , DNA/genetics , Genetic Predisposition to Disease , Multiple Sclerosis/genetics , Polymorphism, Genetic , Risk Assessment/methods , Adult , Alleles , CD40 Antigens/blood , Female , Gene Frequency , Genotype , Humans , Incidence , Male , Multiple Sclerosis/blood , Multiple Sclerosis/epidemiology , Polymerase Chain Reaction , Retrospective Studies , Risk Factors , Russia/epidemiologyABSTRACT
Integral segregation analysis, which earlier proved efficient in studying complex hereditary diseases in humans and have been introduced in animal genetics for several years, was used to analyze the inheritance of hypodontia by premolars in Kerry Blue Terrier dogs. Dental formulas have been determined in 598 out of 911 animals united into a single large, complex pedigree. The results of integrated segregation analysis indicated heterogeneous genetic control of different forms of hypodontia. The geneses of different premolars in dogs have been demonstrated to be described by different models of inheritance: the absence of the second premolars can be described by the recessive major-gene model, whereas the agenesis of the fourth premolars have a more complex genetic mechanism and cannot be described by the model of a simple major-gene control.
Subject(s)
Anodontia/veterinary , Bicuspid/abnormalities , Dog Diseases/genetics , Animals , Anodontia/genetics , Dogs , Genes, Recessive/genetics , Pedigree , PhenotypeABSTRACT
Defects of the premolar tooth formula (oligodontia, tooth number reduction) were studied in dogs of the Kerry blue terrier breed. For this purpose, a database including 480 individuals of 96 litters was constructed. The occurrence of oligodontia was investigated in pedigree groups with inbred and outbred crosses. No selective mating choice for the anomaly under study was found in the sample. The results indicate that oligodontia is inherited, which requires comprehensive study of its genetic control and search for corresponding genes.
Subject(s)
Anodontia/genetics , Anodontia/veterinary , Dog Diseases/genetics , Genetic Predisposition to Disease , Animals , Dogs , Female , Inbreeding , Male , PedigreeABSTRACT
Procedure is described to estimate allele frequencies in indigenous populations of Siberia using phenotype data not only for "pure-blood" representatives of the ethnic groups examined, but also for the descendants of mixed marriages. Implementation of the method requires reconstruction of the data on relatives for the sample examined. Inclusion of the data on descendants of mixed marriages into the analysis increases the sample information content and decreases variance of the estimates obtained. The advantages of the method are illustrated using an example of Tundra Nentsy, for whom it was shown that variance of estimates at the analysis of the blood groups allele frequencies can be diminished approximately by a factor of 1.5.
Subject(s)
Alleles , Gene Frequency , Native Hawaiian or Other Pacific Islander/genetics , Pedigree , Humans , Racial Groups , SiberiaABSTRACT
The method of quantitative trait loci (QTL) mapping based on the partitioning of variance was further developed. This extended possibilities of this method to include its use in the analysis of the data material obtained in the interbreed or interpopulation animal crosses, which provide information for genetic studies of QTL subjected to natural or artificial selection.
Subject(s)
Chromosome Mapping/veterinary , Quantitative Trait, Heritable , Animals , Models, Genetic , Selection, GeneticABSTRACT
The allele frequencies of a tetranucleotide repeat in intron 6 of the lipoprotein lipase gene (humLPL) were analyzed in 95 people from Novosibirsk. Genotype frequencies were shown to conform to the Hardy-Weinberg equilibrium. The allele frequency distribution of the tested hypervariable loci in the Novosibirsk population did not differ significantly from that in the Austrian population.
