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An age-related decrease in factor V Leiden frequency among Polish subjects

100%

Adler G., Parczewski M., Czerska E., Loniewska B., Kaczmarczyk M., Gumprecht J., Grzeszczak W., Szybinska A., Mossakowska M., Ciechanowicz A.

Journal of Applied Genetics

2010

tom 51

nr 3

Factor V Leiden (G1691A FV mutation) is a widely acknowledged risk factor of deep vein thrombosis, including pulmonary embolism as the most serious complication. However, its high prevalence of ~5% in the Caucasian population might be related to an unknown evolutionary advantage. It might exert a beneficial effect on the carrier, e.g. protecting women from excessive bleeding during labour or allowing increased survival in severe sepsis or with other inflammatory diseases. The aim of our study was to verify or contradict the hypothesis of a favourable association between the A allele (A1691) and longevity in the Polish population. For this purpose, the G1691A mutation was analyzed by PCR-RFLP in 1016 Poles: 400 neonates (187 female and 312 male), 184 healthy adults (129 female and 55 male), and 432 long-lived individuals (age ≥ 95 years: 343 women and 89 men). Frequencies of G1691A carriers and the A1691 allele in long-lived individuals (0.2% and 0.1%, respectively) were significantly lower than in neonates (4.2% and 2.2%, respectively) and adults (3.3% and 1.6%). The frequency of the G1691A factor V Leiden mutation decreased with age, which indicates a shorter survival time among A1691 allele carriers in the Polish population.

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Prevalence of the factor V Leiden mutation in patients susceptible to venous thromboembolism

100%

Mitrus J. M., Wierszylo E.

Health Problems of Civilization

2020

tom 14

nr 2

Background. A tendency to venous thromboembolism is otherwise called hypercoagulability or thrombophilia. This disease can be acquired or have a genetic background, and may lead to pulmonary embolism. The basis for analysis and selection of treatment is genetic diagnosis, which detects the G1691A mutation in the factor V gene (factor V Leiden) – the best known congenital thrombophilia marker. Material and methods. The study was carried out in the years 2015-2017 on samples taken from patients (462 men and 1284 women) with a tendency to venous thromboembolism. Real-Time PCR was used to detect G1691A mutation in factor V gene. The analyses were performed in the Hematology Laboratory of the Center of Laboratory Medicine at the Medical University of Gdańsk. Results. Significant differences in the frequency of Leiden mutation were shown. This mutation predominated in men (25%), while in women G1691A mutation was detected with a 15% frequency (p=0.04). All possible genotypes were found among the subjects and the percentage of heterozygotes and homozygotes in both genders was similar. Conclusions. Congenital t hrombophilia a ssociated w ith G1691A mutation of f actor V Leiden gene was found to be more common in men than in women. All possible genotypes were determined in the pool of test subjects. The mutation was most frequently detected in patients between 30 and 40 years of age, and rarely after 70 years of age.

Ograniczanie wyników

1 Health Problems of Civilization

1 Journal of Applied Genetics

1 Adler G.

1 Ciechanowicz A.

1 Czerska E.

1 Grzeszczak W.

1 Gumprecht J.

1 Kaczmarczyk M.

1 Loniewska B.

1 Mitrus J. M.

1 Mossakowska M.

1 Parczewski M.

1 Szybinska A.

1 Wierszylo E.

1 2020

1 2010

Wyniki wyszukiwania

An age-related decrease in factor V Leiden frequency among Polish subjects

Prevalence of the factor V Leiden mutation in patients susceptible to venous thromboembolism