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Leiden mutation, its signification and methods of examination
FIALOVÁ, Kateřina
The subject of this thesis is Leiden mutation, its signification and methods of examination. This work deals with frequency of occurrence F V Leiden mutation in samples of examinants in the centre of laboratory medicine BioLab, spol. s. r. o., in Klatovy. Thrombophilia (hypercoagulation) is a genetic or acquired failure of hemostatic mechanistic system, which is connected with increased risk of the occurrence of thrombosis. The most important and the most frequent effect of thrombophilia is the venous thromboembolism. This concept means both deep venous thrombosis and/or pulmonary embolism and their development is always caused by several factors which are genetic or acquired. Mutation of factor V was described in 1993 as the resistance against activated protein (so called APC-resistance). It occurs most commonly as a genetic thrombophilia of white race where it can be found in 40% of patients with diagnosed thromboembolism. Leiden mutation in a gene for factor V is the most frequent predisposition for thrombosis. The risk of development of venous thromboembolism differs according as the fact if it is a heterozygotic or homozygotic carrier. Heterozygotic individuals are 7 times more riskly as for the development of venous thrombosis while the risk level in homozygotic individuals is 80 times. The rate of prevalence of FV Leiden mutation in the world ranges from 0 to 15 %. APC- resistance is caused by point mutation in the polynucleotide chain of a gene for factor V. Here it concerns the exchange of the nucleotide sequence respectively nitrogen basis of guanine and adenine for the position 1691 (G1691A). It creates a triplet which codes in position 506 in the place of amino acid arginine -Arg, R, glutamine -Gln, Q(R506Q). It causes resistance of the active factor V against protein C, which is to inactivate it. The factor V stays henceforth pro- coagulative and thus the creation of thrombin increases together with the risk of thromboembolic disease. The goal of this thesis was summarising of research findings related to the focused theme Leiden mutation, its signification and methods of examination, analyze whole blood samples of patients examined at Leiden mutation carrier status in the center of Laboratory Medicine BioLab, spol. s. r. o. in Klatovy and in consequence and then evaluate and interpret the results of the found out results. Carrier of FV Leiden mutation was observed in a group of patients of both sexes coming from Plzeň and Ústí nad Labem region using real-time PCR. Of the 169 patients examined 111 samples were obtained from women and 58 samples from men. Among women there were found 21 heterozygous carriers (18.9%) and 1 homozygous carrier of (0.9%) FV Leiden mutation. The male population was observed incidence of 17 heterozygotes (29.3%). None of the men did not hold the homozygous genotype FV Leiden mutation. Although the men were twice as frequent carriers of that mutation was not statistical analyzes demonstrated the effect of gender on the transfer FV Leiden mutation (P = 0.2).
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Hypercoagulability and their occurrence in a population sample of young women
MARKOVÁ, Markéta
This work deals with hypercoagulable conditions, caused by shifting the natural balance towards the pro-coagulation processes which are associated with a heightened risk of venous thrombosis. The research part is divided into three parts. My laboratory work was conducted at the Department of Clinical Hematology at Czech Budejovice Hospital, where, in February I conducted hyper-coagulation tests. More specifically, factor VIII, lupus anticoagulant and the functional levels of protein C and protein S. Other reasearch activities included the evaluation of patients who had been examined over a period of one year and the frequency of occurrence among different age and gender groups. The highest occurrence was observed, as expected, with women aged 18-39 and elderly men. The last part of the paper is a questionnaire on how women are informed about the risk factors of thrombosis, family history and risks for individual respondents. We managed to isolate 7 potentially vulnerable women whose families (more precisely their parents) have a history of thrombosis, and who take hormonal contraceptives.
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