The frequencies of six important thrombophilic mutations in a population of the Czech Republic

Title:

The frequencies of six important thrombophilic mutations in a population of the Czech Republic

Creator:

Tomáš Kvasnička, Jaroslava Hájková, Bobčíková, P., Čverhová, V., Ivana Malíková, Jan Ulrych, Bříza, J., Daniela Dušková, Šárka Poletínová, Kieferová, V., and Jan Kvasnička

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:4d9da8bd-e977-4e25-819f-f1368c9e1060
uuid:4d9da8bd-e977-4e25-819f-f1368c9e1060

Subject:

Fyziologie člověka a srovnávací fyziologie, genotyp, genotype, Česko, Czechia, hereditary thrombophilia, genotypes, allele, frequencies, Czech Republic, 14, and 612

Type:

article, články, model:article, and TEXT

Format:

print

Description:

The primary aim was to determine frequencies of mutations related to risk of venous thrombosis in healthy Caucasians in Central Bohemia. In a cohort of 1527 healthy individuals the frequency of risk alleles for the mutations FV Leiden and FII 20210G>A was 4.5 % and 1.3 %, respectively. Frequency of 4G PAI-1 allele was 55.5 %. Genotype frequencies were: GG 91.03 %, GA 8.91 %, an d AA 0.07 % for FV Leiden; GG 97.45 %, GA 2.49 %, and AA 0.07 % for FII 20210G>A; 4G/4G 30.26 %, 4G/5G 50.56 %, and 5G/5G 19.19 % for PAI-1. Frequency of the risk allele A in polymorphism SERPINC1 (IVS +141G >A) was 11.3 %, and frequencies of genotypes were as follows: GG 78.36 %, GA 20.66 %, and AA 0.98 %. Frequency of the risk allele T for polymorphism GP6 13254T>C was 87.7 %, and frequencies of genotypes were as follows: TT 77.14 %, TC 21.15 %, and CC 1.70 %. Frequency of the risk allele A in polymorphism CYP4V2 (Lys259Gln ) was 65.2 %, and frequencies of genotypes were: CC 12.25 %, CA 45.12 %, and AA 42.63 %. All observed genotypes and alleles frequencies were without gender differences. Their occurrences confirm a relatively high prevalence of hereditary thrombophilia predisposition in the Czech Republic., T. Kvasnička ... [et al.]., and Obsahuje bibliografii a bibliografické odkazy

Language:

English

Rights:

http://creativecommons.org/licenses/by-nc-sa/4.0/
policy:public

Source:

Physiological research | 2014 Volume:63 | Number:2

Harvested from:

CDK

Metadata only:

false