|
|
Population differences in the distribution of HLA-B27 allele in ankylosing spondylitis
Lennerová, Tereza ; Hušáková, Markéta (advisor) ; Novota, Peter (referee)
Ankylosing spondylitis (AS) is a chronic inflammatory disease affecting mainly the spine and the sacroiliac joints. This disorder has a genetic background and is strongly associated with HLA-B27 gene which occurs in about 90 % of patients. The prevalence of ankylosing spondylitis usually correlates with the frequency of HLA-B27. The strength of association HLA-B27 with AS varies between different populations and is also distinct for individual alleles of HLA-B27 gene. Some alleles can increase a risk of ankylosing spondylitis while others may have a protective effect. This work deals with the population differences in the occurrence of HLA-B27 alleles and their relation to development of ankylosing spondylitis. Key words: ankylosing spondylitis, HLA-B27, allele, subtype, population differences
|
|
|
Immunogenetic and hormonal markers of predisposition to systemic rheumatic diseases particularly systemic lupus erythematosus
Fojtíková, Markéta ; Pavelka, Karel (advisor) ; Hrnčíř, Zbyněk (referee) ; Rovenský, Jozef (referee)
Fojtikova 2011 INTRODUCTION: Several factors like genetic susceptibility is required for systemic rheumatic diseases development. Immunomodulatory PRL effect supports autoimmunity. AIMS: 1. To detect the immunogenetic background (alleles HLA class I, II and microsatellite polymorphism of the transmembrane part exon 5 of MIC-A gene) of SLE and PsA. 2. To detect PRL serum and synovial fluid with regard to clinical and laboratory RA activity. 3. To find the role of the functional polymorphism -1149G/T SNP PRL of extrapituitary promoter of PRL gene in SLE, RA, PsA, SSc and inflammatory myopathies development. METHODS: Genetic analyses of pateints with SLE (n=156), RA (n=173), PsA (n=100), SSc (n=75), PM (n=47) a DM (n=68) and 123 healthy individuals: PCR-SSP (HLA clase I and II), PCR-fragment analysis (MIC-A) a PCR-RFLP (-1149 G/T SNP PRL). In 29 RA a 26 OA PRL serum and synovial fluid concentrations were detected using immunoradiometric assay. RESULTS: 1. The allele HLA-DRB1*03 (pc=0.008; OR 2.5) and haplotype HLA-DRB1*03-DQB1*0201 (pc <0.001; OR 4.54) were determined as risk immunogenetic markers for SLE in Czech population. In SLE versus controls allele MIC-A5.1 was increased (pc =0.005; OR 1.88). MIC-A5.1 together with HLA-DRB1*03 increases the risk for SLE development, pc <0.000001; OR 9.71....
|
|
|
Population differences in the distribution of HLA-B27 allele in ankylosing spondylitis
Lennerová, Tereza ; Hušáková, Markéta (advisor) ; Novota, Peter (referee)
Ankylosing spondylitis (AS) is a chronic inflammatory disease affecting mainly the spine and the sacroiliac joints. This disorder has a genetic background and is strongly associated with HLA-B27 gene which occurs in about 90 % of patients. The prevalence of ankylosing spondylitis usually correlates with the frequency of HLA-B27. The strength of association HLA-B27 with AS varies between different populations and is also distinct for individual alleles of HLA-B27 gene. Some alleles can increase a risk of ankylosing spondylitis while others may have a protective effect. This work deals with the population differences in the occurrence of HLA-B27 alleles and their relation to development of ankylosing spondylitis. Key words: ankylosing spondylitis, HLA-B27, allele, subtype, population differences
|
|
|
Immunogenetic and hormonal markers of predisposition to systemic rheumatic diseases particularly systemic lupus erythematosus
Fojtíková, Markéta ; Pavelka, Karel (advisor) ; Hrnčíř, Zbyněk (referee) ; Rovenský, Jozef (referee)
Fojtikova 2011 INTRODUCTION: Several factors like genetic susceptibility is required for systemic rheumatic diseases development. Immunomodulatory PRL effect supports autoimmunity. AIMS: 1. To detect the immunogenetic background (alleles HLA class I, II and microsatellite polymorphism of the transmembrane part exon 5 of MIC-A gene) of SLE and PsA. 2. To detect PRL serum and synovial fluid with regard to clinical and laboratory RA activity. 3. To find the role of the functional polymorphism -1149G/T SNP PRL of extrapituitary promoter of PRL gene in SLE, RA, PsA, SSc and inflammatory myopathies development. METHODS: Genetic analyses of pateints with SLE (n=156), RA (n=173), PsA (n=100), SSc (n=75), PM (n=47) a DM (n=68) and 123 healthy individuals: PCR-SSP (HLA clase I and II), PCR-fragment analysis (MIC-A) a PCR-RFLP (-1149 G/T SNP PRL). In 29 RA a 26 OA PRL serum and synovial fluid concentrations were detected using immunoradiometric assay. RESULTS: 1. The allele HLA-DRB1*03 (pc=0.008; OR 2.5) and haplotype HLA-DRB1*03-DQB1*0201 (pc <0.001; OR 4.54) were determined as risk immunogenetic markers for SLE in Czech population. In SLE versus controls allele MIC-A5.1 was increased (pc =0.005; OR 1.88). MIC-A5.1 together with HLA-DRB1*03 increases the risk for SLE development, pc <0.000001; OR 9.71....
|
|
|
Genetic determination of coat color in Border Collie
Hronová, Michaela ; Hofmanová, Barbora (advisor) ; Fiala Šebková, Naděžda (referee)
This bachelor thesis should serve as literature review or better say as scholarly introduction to genetic determination of fur in dgo with focusing on Border Collie breed. The thesis itself is divided to several parts. First on eis trying to introduce main pigment types synthesis, then an overview of genes affecting coat color in dogs is given. Next article is determined to versatile use of Border Collies and basic informations on the status of this breed in the Czech Republic. The last part is focused on fur color related genetic diseases. Thanks to the ongoing research of this field, I used some geneticly unverified sources.
|
|
|
Genetická a morfologická variabilita skupiny \kur{Melampyrum nemorosum}
DRAHNÍK, Petr
Melampyrum nemorosum agg. is very complicated group of hemiparasitic plants. According to the traditional concept, 15 species is distinguished. Recent molecular analyses show a need of critical taxonomic revision of group and a potential importance of ancient hybridization. Analysis of 3 regions of cpDNA (trnTUGU-trnLUAA, psbA-trnHGUG, rpl32-trnLUAG) and 2 regions of nuclear DNA (Agt1 and At103) reveals well supported lineage with limited geographical distribution. Morphology and genome size of genetically supported lineages were compared.
|
|
|
Genetická a morfologická variabilita skupiny \kur{Melampyrum nemorosum}
DRAHNÍK, Petr
Melampyrum nemorosum agg. is very complicated group of hemiparasitic plants. According to the traditional concept, 15 species is distinguished. Recent molecular analyses show a need of critical taxonomic revision of group and a potential importance of ancient hybridization. Analysis of 3 regions of cpDNA (trnTUGU-trnLUAA, psbA-trnHGUG, rpl32-trnLUAG) and 2 regions of nuclear DNA (Agt1 and At103) reveals well supported lineage with limited geographical distribution. Morphology and genome size of genetically supported lineages were compared.
|
|
|
Genetika zbarvení činčil
Poslušná, Michala
There are same principles for color coat genesis for all mammals, both on a molecular level and when the final phenotype is created. Even in the early embryonic stage the cells for pigment deposition are distributed to the periphery parts of the body, skin cells and hairfollicles. The most important substance for color coat genesis is melanin pigment, whose synthesis is affected by melanocortin and two basic pigments eumelanin a pheomelanin are made by enzymatic cycles. The final phenotype is influenced by 5 or 6 basic genes, their mutations and interaction between them. Model system for showing the creation of color coat is mice. Chinchilla's, whom the work is dedicated to, genes and alelles haven't been described in exact way yet, but it is supposed, that basic principles are the same as in mice and the knowledge of color coat genetics in rodents are based on this claim. Breeders use allele indication made by themselves and genotype is determined by the animal's phenotype. The phenotype of offspring is determined by genotype of both parents.
|
|
| |
|
| |
guest ::
