Frequency of FV Leiden and FII G20210A Mutations in Patients with Inherited Antithrombin Deficiency from Serbia
Autori
Tomić, BrankoKovač, Mirjana
Pruner, Iva
Gvozdenov, Maja
Dunjić, Sofija
Cumbo, Marija
Radojković, Dragica
Đorđević, Valentina
Konferencijski prilog (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
PURPOSE: Thrombosis is multicausal disease in which both acquired and genetic risk factors play
important roles. The most frequent genetic risk factors known to date are the Factor V G1691A (FV
Leiden) and FII G20210A mutations. On the other hand, inherited antithrombin (AT) deficiency, caused
by mutations in the AT gene (SERPINC1) is a very rare disorder, but it is associated with significant risk
for thrombotic complications. AT deficiency is classified into two types: type-I is a quantitative disorder
characterized by decreased amount and activity of AT, while type-II is a qualitative - functional disorder.
Aim of our study was to analyze the frequency of FV Leiden and FII G20210A mutations in patients with
inherited AT deficiency from Serbia.
METHODOLOGY: A study was carried out in large group of AT deficiency patients from Serbia. Cohort
of 42 subjects (15m/27f; 36.7±18.7y) from 18 Serbian families included 24 symptomatic and 18
asymptomatic first-degree relatives. Among... them, type-I AT deficiency were detected in 9 families (19
members: 6m/13f; 37.1±19.0y) and type-II in 9 families (23 members: 9m/14f; 36.5±18.8y). FV Leiden
and FII G2010A mutations were detected by PCR, followed by digestion with specific restriction enzymes
(PCR-RFLP).
RESULTS: We have detected 3 FV Leiden heterozygous carriers in 3 different families (1 with type-I
and 2 with type-II AT deficiency). All 3 carriers were symptomatic. Regarding FII G20210A mutation, 2
heterozygous carriers, both asymptomatic and from same family with type-I deficiency, were identified.
According to our findings in families with AT deficiency from Serbia frequency of FV Leiden and FII
G20210A mutation are 16.7% and 5.6%, respectively.
CONCLUSION: This is the first study in which frequency of FV Leiden and FII G20210A mutations in
patients with inherited AT deficiency from Serbia were examined. Results of our study suggest that
these mutations can be relevant for AT deficiency patients’ phenotype, but further studies are required.
Ključne reči:
antithrombin deficiency / FV Leiden / FIIG20210AIzvor:
16th International Hemophilia Congress of Turkey, 2019, 212-212Napomena:
- Synergy in Hemophilia; 16th International Hemophilia Congress of Turkey, April 2019, Antalya
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Tomić, Branko AU - Kovač, Mirjana AU - Pruner, Iva AU - Gvozdenov, Maja AU - Dunjić, Sofija AU - Cumbo, Marija AU - Radojković, Dragica AU - Đorđević, Valentina PY - 2019 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2145 AB - PURPOSE: Thrombosis is multicausal disease in which both acquired and genetic risk factors play important roles. The most frequent genetic risk factors known to date are the Factor V G1691A (FV Leiden) and FII G20210A mutations. On the other hand, inherited antithrombin (AT) deficiency, caused by mutations in the AT gene (SERPINC1) is a very rare disorder, but it is associated with significant risk for thrombotic complications. AT deficiency is classified into two types: type-I is a quantitative disorder characterized by decreased amount and activity of AT, while type-II is a qualitative - functional disorder. Aim of our study was to analyze the frequency of FV Leiden and FII G20210A mutations in patients with inherited AT deficiency from Serbia. METHODOLOGY: A study was carried out in large group of AT deficiency patients from Serbia. Cohort of 42 subjects (15m/27f; 36.7±18.7y) from 18 Serbian families included 24 symptomatic and 18 asymptomatic first-degree relatives. Among them, type-I AT deficiency were detected in 9 families (19 members: 6m/13f; 37.1±19.0y) and type-II in 9 families (23 members: 9m/14f; 36.5±18.8y). FV Leiden and FII G2010A mutations were detected by PCR, followed by digestion with specific restriction enzymes (PCR-RFLP). RESULTS: We have detected 3 FV Leiden heterozygous carriers in 3 different families (1 with type-I and 2 with type-II AT deficiency). All 3 carriers were symptomatic. Regarding FII G20210A mutation, 2 heterozygous carriers, both asymptomatic and from same family with type-I deficiency, were identified. According to our findings in families with AT deficiency from Serbia frequency of FV Leiden and FII G20210A mutation are 16.7% and 5.6%, respectively. CONCLUSION: This is the first study in which frequency of FV Leiden and FII G20210A mutations in patients with inherited AT deficiency from Serbia were examined. Results of our study suggest that these mutations can be relevant for AT deficiency patients’ phenotype, but further studies are required. C3 - 16th International Hemophilia Congress of Turkey T1 - Frequency of FV Leiden and FII G20210A Mutations in Patients with Inherited Antithrombin Deficiency from Serbia EP - 212 SP - 212 UR - https://hdl.handle.net/21.15107/rcub_imagine_2145 ER -
@conference{ author = "Tomić, Branko and Kovač, Mirjana and Pruner, Iva and Gvozdenov, Maja and Dunjić, Sofija and Cumbo, Marija and Radojković, Dragica and Đorđević, Valentina", year = "2019", abstract = "PURPOSE: Thrombosis is multicausal disease in which both acquired and genetic risk factors play important roles. The most frequent genetic risk factors known to date are the Factor V G1691A (FV Leiden) and FII G20210A mutations. On the other hand, inherited antithrombin (AT) deficiency, caused by mutations in the AT gene (SERPINC1) is a very rare disorder, but it is associated with significant risk for thrombotic complications. AT deficiency is classified into two types: type-I is a quantitative disorder characterized by decreased amount and activity of AT, while type-II is a qualitative - functional disorder. Aim of our study was to analyze the frequency of FV Leiden and FII G20210A mutations in patients with inherited AT deficiency from Serbia. METHODOLOGY: A study was carried out in large group of AT deficiency patients from Serbia. Cohort of 42 subjects (15m/27f; 36.7±18.7y) from 18 Serbian families included 24 symptomatic and 18 asymptomatic first-degree relatives. Among them, type-I AT deficiency were detected in 9 families (19 members: 6m/13f; 37.1±19.0y) and type-II in 9 families (23 members: 9m/14f; 36.5±18.8y). FV Leiden and FII G2010A mutations were detected by PCR, followed by digestion with specific restriction enzymes (PCR-RFLP). RESULTS: We have detected 3 FV Leiden heterozygous carriers in 3 different families (1 with type-I and 2 with type-II AT deficiency). All 3 carriers were symptomatic. Regarding FII G20210A mutation, 2 heterozygous carriers, both asymptomatic and from same family with type-I deficiency, were identified. According to our findings in families with AT deficiency from Serbia frequency of FV Leiden and FII G20210A mutation are 16.7% and 5.6%, respectively. CONCLUSION: This is the first study in which frequency of FV Leiden and FII G20210A mutations in patients with inherited AT deficiency from Serbia were examined. Results of our study suggest that these mutations can be relevant for AT deficiency patients’ phenotype, but further studies are required.", journal = "16th International Hemophilia Congress of Turkey", title = "Frequency of FV Leiden and FII G20210A Mutations in Patients with Inherited Antithrombin Deficiency from Serbia", pages = "212-212", url = "https://hdl.handle.net/21.15107/rcub_imagine_2145" }
Tomić, B., Kovač, M., Pruner, I., Gvozdenov, M., Dunjić, S., Cumbo, M., Radojković, D.,& Đorđević, V.. (2019). Frequency of FV Leiden and FII G20210A Mutations in Patients with Inherited Antithrombin Deficiency from Serbia. in 16th International Hemophilia Congress of Turkey, 212-212. https://hdl.handle.net/21.15107/rcub_imagine_2145
Tomić B, Kovač M, Pruner I, Gvozdenov M, Dunjić S, Cumbo M, Radojković D, Đorđević V. Frequency of FV Leiden and FII G20210A Mutations in Patients with Inherited Antithrombin Deficiency from Serbia. in 16th International Hemophilia Congress of Turkey. 2019;:212-212. https://hdl.handle.net/21.15107/rcub_imagine_2145 .
Tomić, Branko, Kovač, Mirjana, Pruner, Iva, Gvozdenov, Maja, Dunjić, Sofija, Cumbo, Marija, Radojković, Dragica, Đorđević, Valentina, "Frequency of FV Leiden and FII G20210A Mutations in Patients with Inherited Antithrombin Deficiency from Serbia" in 16th International Hemophilia Congress of Turkey (2019):212-212, https://hdl.handle.net/21.15107/rcub_imagine_2145 .