The Frequency of Factor V Leiden and Concomitance of Factor V Leiden With Prothrombin G20210A Mutation and Methylene Tetrahydrofolate Reductase C677T Gene Mutation in Healthy Population of Denizli, Aegean Region of Turkey

Autor: Erol Ömer Atalay, Nazan Keskin, Ali Keskin, Sibel Kabukcu
Rok vydání: 2007
Předmět:
Male
Turkey
gene amplification
polymerase chain reaction
genetic analysis
heritability
030204 cardiovascular system & hematology
Gene mutation
Reductase
Turkey (republic)
0302 clinical medicine
oligonucleotide probe
hemic and lymphatic diseases
gene mutation
030212 general & internal medicine
Amino Acids
hybridization
Genetics
article
Hematology
General Medicine
female
priority journal
Health
Prothrombin G20210A
Female
Prothrombin
medicine.drug
Adult
FV Leiden
5
10 methylenetetrahydrofolate reductase (FADH2)
gene frequency
Biology
Thrombophilia
03 medical and health sciences
medicine
Factor V Leiden
heterozygosity
Humans
Amino Acids/*genetics/metabolism
Factor V/*metabolism
Methylenetetrahydrofolate Reductase (NADPH2)/genetics/*metabolism
Mutation/genetics
Prothrombin/genetics/*metabolism
human
normal human
Methylenetetrahydrofolate Reductase (NADPH2)
function test
thrombophilia
prothrombin
population genetics
Factor V
Frequency
medicine.disease
Molecular biology
blood clotting factor 5 Leiden
Methylenetetrahydrofolate reductase
Mutation
biology.protein
homozygosity
Activated protein C resistance
Protein C
Zdroj: Clinical and Applied Thrombosis/Hemostasis. 13:166-171
ISSN: 1938-2723
1076-0296
DOI: 10.1177/1076029606298990
Popis: Factor V Leiden causing activated protein C resistance is the most common inherited form of thrombophilia leading to thrombosis. Its frequency shows great ethnic and geographic variations. The aim of this study was to determine the frequency of FV Leiden and coinheritance of FV Leiden with two other frequent hereditary thrombophilia causes, namely, prothrombin G20210A and methylene-tetrahydrofolate reductase (MTHFR) C677T mutation in the Aegean region of Turkey. The study population consisted of 1030 (500 men and 530 women) apparently healthy subjects. Functional resistance to activated protein C (APC) was measured by using the test kit STA staclot APC-R ((Diagnostica Stago, Asnieres, France, Cat. No. 00721). In subjects with APC resistance, molecular analyses of FV Leiden and of prothrombin G20210A and MTHFR C677T mutation were performed by using FV-PTH-MTHFR StripA (Vienna Lab, Labordiagnostika GmbH, Austria) kit, which was based on hybridization of polymerase chain reaction (PCR) amplified DNA products with mutation-specific oligonucleotide probes. Functional APC resistance was present in 93 subjects (9%). FV Leiden mutation was found in 87 of 93 subjects with APC resistance by PCR method. The FV Leiden carrier frequency was found to be 8.4% (87/1030). Seventy-six individuals were heterozygous (7.3%), and 11 were homozygous (1.06%). Among the 87 subjects with FV Leiden mutation, 45 subjects had MTHFR C677T gene mutation (7 homozygous, 38 heterozygous) and 4 subjects had heterozygote prothrombin G20210A gene mutation. A combination of FV Leiden and prothrombin G20210A and MTHFR C677T gene mutation was detected in 3 subjects. The results indicate that FV Leiden prevalence is quite high and coexistence of FV Leiden with other hereditary causes of thrombosis such as prothrombin G20210A mutation and MTHFR enzyme defect is not rare in healthy population of Aegean region of Turkey. © 2007 Sage Publications.
Databáze: OpenAIRE
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