|
|
The role of genetics in the pathogenesis of \kur{diabetes mellitus}
BRÁZDOVÁ, Sára
Diabetes mellitus is a chronic metabolic disease, which is caused by enrivonmental and genetic factors. This disease is characterised by elevated glucose levels in the blood. Diabetes is divided into two main types. Diabetes type I. is the autoimmune reaction of the organism. It's genetic predisposition is mainly based on the HLA complex II. class. Diabetes type II. is represented by impaired insulin secretion or action. Genetic predisposition of this type is very various.
|
|
|
Genetic factors affecting course of selected forms of nephrotic syndrome
Šafaříková, Markéta ; Štekrová, Jitka (advisor) ; Král, Jiří (referee)
Nephrotic syndrome (NS) is characterized by proteinuria, hypalbuminemia and edemas. It occurs during first and second glomerulopathies. This disease can be divided into two groups: primary (idiopathic) and secondary. The heredity of the familial nephrotic syndrome is autosomal dominant and autosomal recessive. There are four most important genes that condition the formation of hereditary nephrotic syndrome in adult patienst. These genes are ACTN4, CD2AP, NPHS2 and TRPC6. The gene ACTN4, which encodes protein α-actinin 4, is responsible for the autosomal dominant form of focal segmental glomerulosclerosis (FSGS). FSGS is included in first glomerulopathies. α-Actinin 4 was also researched for some types of carcinomas. There was performed the mutational analysis of the gene ACTN4 on the set of 48 patients with nephrotic syndrome in this diploma thesis. High resolution melting (HRM) analysis and sequencing selected samples were used during this mutation detection. During this process many published and unpublished SNPs and one unpublished candidate mutation that could have causal associations with FSGS were found.
|
|
|
Clinical significance of cytokine gene polymorphism
Kolesár, Libor ; Stříž, Ilja (advisor) ; Holáň, Vladimír (referee) ; Mrázek, František (referee)
Univerzita Karlova v Praze Přírodovědecká fakulta Studijní program: Doktorský studijní program v biomedicíně Studijní obor: Imunologie Mgr. Libor Kolesár Klinický význam polymorfismu cytokinových genů Clinical significance of cytokine gene polymorphism Disertační práce Vedoucí závěrečné práce/Školitel: Prof. MUDr. Ilja Stříž, CSc Praha 2012 Abstract The human genome is full of different sequence variants. They are different mainly in size but also in their influence on phenotype. The smallest unit of genetic polymorphism is single nucleotide polymorphism (SNP). SNPs represent a single nucleotide change between two alleles and might affect the gene expression. We have studied SNPs in three distinct fields as: (1) marker of risky patients after the organ transplantation, (2) diagnostic marker of patients with interstitial lung diseases (ILD) or (3) with uterine fibroid (UF). We have come to the following results. Ethnicity or even nationality plays a role in the distribution of genetic polymorphism. This must be absolutely taken into account when one would like to transfer findings of a clinical study from a certain nation or ethnic and applied them to his studied group for the comparative purposes. Our first clinical gene-association study has found that even gene polymorphism of the IL-18 gene may...
|
|
|
SNP polymorphisms of Y chromosome in the population of african fulani people
Bučková, Jana ; Šimková, Halina (referee) ; Černý, Viktor (advisor)
Markers on the non-recombining region of chromosome Y is a useful tool for study of diversity between populations. SNPs are the most commom polymorphisms in human genome. Mutation rate of SNPs is very low and so they may be used as genetic markers in evolutionary and population studies. We have analyzed 205 unrelated men from 11 Sub-Saharan Fulani's subpopulations. Fulani are an ethnic group of people spread over many countries, mainly in West Africa. Our samples are from Tindangou area, Banfora area (Burkina Faso), Bongor area, Linia area (Chad), Diafarabé area (Mali), Tcheboua area (Cameroon), Banfora area, Diffa area, Zinder area, Ader area and Abalak area (Niger). Using kit Signet Y-SNP Identification Systems and Luminex instrument with LabMAP Luminex Technology we detected particular Y chromosome's SNPs. LabMAP Luminex Technology is universal array platform, which as a probe using fluorescent polystyrene microspheres. We have observed 12 different haplogroups. Haplogroup E, which is typical African haplogroups, is determined with derivated allele in polymorfism M96. We have detected haplogroup E in maximum of 89,3% in the Fulani's subpopulations. In 7,8% we have detected haplogroup R, which is characteristic of populations in the Euroasia. Gene pool of Fulani's population is influenced with a...
|
|
| |
|
|
Variabilita markeru TG5 a asociace k obsahu intramuskulárního tuku a marblingu u skotu
Grosová, Hana
The variability of the marker TG5 TG gene and its association with the intramuscular fat and marbling of meat in cattle was studied. Randomly selected population, composed of 237 individuals (bulls) of the Czech Pied cattle breed from four farms in the Czech Republic, waschosen for testing polymorphisms. Polymerase chain reaction was used to amplify a fragment of TG 545 bp in size. After amplification, the fragments digestion was performed using the restriction endonuclease BstYI. To verify the presence of the PCR product and to identify the sizes of digested frag-ments the horizontal agarose electrophoresis was performed. The population's absolute and relative frequencies of alleles and genotypes were calculated. The calculations reve-aled a high frequency of the T allele (25.98 %). In conclusion, statisticalanalysis was performed. As a result, the influence of C422T polymorphism in the 5'promoter region of the gene on the TG and on the IMT marblinghave not been proven, but on the contra-ry there was detected significant effect (p<0.05) of polymorphism content on the region of Lauric acid (C12:0). The results also reveal some evidence of polymorphism having influence on Timnodonic acid and meat pH.
|
|
|
Slovak National Uprising
Orság, Michal ; Terén, Laco (referee) ; Ambrůz, Jan (advisor)
The aim of the thesis was to bring events after 1945, when there was a period of remembrance in the company , which served as a therapy , politics and aesthetics . Work on the memories gradually morphed into , among other things , to the monuments that act against collective oblivion . Arise place of remembrance , which relate to historical events and private stories . Partisan monuments fill in the country which they have to remind essentially absent . Again remembering you and gets to the surface again forgotten information that creating a logical connection form the structure . This structure is subject to change , which helped by rewriting and overlapping information in different layers of the structure . Neither art does not avoid the remembrance and forgetting , and creates a theme of a strategy , which is included rewriting . Media and individual override blank sheets in the past, currently , collecting and composing the mosaic , which allows you to create your own identity.
|
|
| |
|
| |
|
| |
guest ::
