You are here

Home » Content

Sivas Populasyonunda Faktör V Genin Leiden (G1691a) ve Hr2 (A4070g) Polimorfizmleri

The Leiden (G1691a) and Hr2 (A4070g) Polymorphisms of Factor V Gene in Sivas Population

Journal Name:

  • İnönü Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 2009

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Aim: Factor V Leiden is one of the common known risk factors of thrombofhilic disease. Factor V Leiden mutation is determinated in Europe at a prevelance of 7-10%. It is suggested that the risk of venous thrombosis, peripheral vascular disease, stroke, unexplained fetal losses, pulmonary embolism and miyocardial infarctus at populations carry this mutation. After this mutation, Factor V A4070G polymorphism has been found and referred as R2 haplotype. This polymorphism has been claimed to decrease factor V levels in plasma and also alter the balance of two functionally different isoforms of Factor V and leads to thrombosis. The prevalance of FV Leiden and RH2 alleles shows significant differences between the geographic regions. Therefore, the regional prevalance is important in determining related diseases. In this regard, we investigated the allelic frequencies of Leiden and R2 polymorphisms of the Factor V gene in 214 randomly selected individuals around Sivas. Materials and Methods: The study group was selected between individuals residing in Sivas. Total 214 subjects (103 men and 111 woman) were enrolled in the study. The subjects were informed of the purpose of the study and signed a written consent. The factor V gene polymorphisms were determined DNA isolation was performed from peripheral blood samples. The mutation analysis was performed by StripAssay technique which is based on the reversehybridization principle automatically. Data were analyzed by SPSS 15.0 package program. Conclusions: Compared to all other populations reported so far, in our studys, Sivas population harbors generally the similar prevalance of the FV leiden and HR2 polymorphism. This is an finding to be followed in terms of clinical aspect.
Bookmark/Search this post with
Abstract (Original Language): 
Amaç: Faktör V Leiden mutasyonu trombofilinin en sık görülen risk faktörlerinden biridir. Faktör V Leiden mutasyonun Avrupada sıklığının %7-10 olduğu belirlendi. Bu mutasyonu taşıyan populasyonlarda venöz tromboz, periferal vasküler hastalık, felç, açıklanamayan tekrarlayan gebelik kayıpları, pulmoner embolizm ve kalp krizi görülme riskinin arttığı ileri sürülmektedir. Bu mutasyondan sonra FV A4070G mutasyonu bulundu ve R2 olarak adlandırıldı. Bu polimorfizmin plazmadaki faktör V seviyelerini azalttığı, ayrıca iki fonksiyonel olarak farklı faktör V izoformu arasındaki dengeyi bozduğu ve koagulasyona eğilimi arttırdığı iddia edilmiştir. FV Leiden ve RH allelerinin prevalansı coğrafi bölgeler arasında önemli farklılıklar göstermektedir. Bundan dolayı bölgesel prevalansaların belirlenmesi, ilişkili hastalıklara yaklaşım için önemlidir. Bu amaçla, Sivas çevresinden rastgele seçilmiş 214 bireyde faktör V geninin Leiden ve R2 polimorfizmlerinin allel frekansı araştırıldı. Materyal ve Metod: Hasta grubunu Sivas bölgesinde ikamet eden bireyler arasında rastgele seçtik. 103 erkek ve 111 kadın olmak üzere toplam 214 kişi çalışmamıza dahil edildi. Çalışma grubunun bireyleri, çalışmanın amacı hakkında bilgilendirildi ve yazılı onam belgesi imzalatıldı. Gen mutasyonlarını belirlemek için periferik kan örneklerinden DNA izolasyonu yapıldı. Mutasyon analizi revers hibridizasyon prensiplerine dayanan strip assay tekniğiyle yapıldı. Veriler SPSS 15.0 istatistik programı kullanılarak analiz edildi. Sonuç: Şu ana kadar rapor edilmiş diğer populasyonlarla karşılaştırdığımızda, Sivas populasyonundaki FV Leiden ve HR2 taşıyıcılık frekanslarının bunlarla benzer olduğunu bulduk. Bu klinik açıdan takip edilmesi gereken bir bulgudur.
FULL TEXT (PDF): 
PDF icon arastirmax-sivas-populasyonunda-faktor-v-genin-leiden-g1691a-hr2-a4070g-polimorfizmleri.pdf
  • 3
179-183
  • Turkish

REFERENCES

References: 

1- Lawrence CH, Comp CP. Regulation of hemostasis : The
protein C system. N Eng J Med 1986; 314: 1298-304.
2- Schafer AI. Hypercoagulable states: Moleculer genetics to
clinical practice. Lancet 1994; 344: 1739-42.
3- van Stralen KJ, Doggen CJ, Bezemer ID et al. Mechanisms of the
factor V Leiden paradox. Arterioscler Thromb Vasc Biol,
2008;28(10):1872-7.
4- Margaglione M, Brancaccio V, De Lucia D, et al. Inherited
thrombophilic risk factors and thromboembolism. Chest
2000; 18(5); 1405-11.
5- Weinmann EE, Salzman EW. Deep-vein thrombosis. N
Eng J Med 1994;331: 1630-41.
6- Jolyon J, Yale N. The pathways of blood coagulation. In:
Beutler E, Lichtman MA,Coller BS, Kipps TS (Eds)
Williams Hemotology. 5th ed. New York: McGraw-Hill Inc
1995;1227-38.
7- Ozbek N, Alioglu B, Avci Z, Malbora B, et al. Incidence of and
risk factors for childhood thrombosis: a single-center experience
in Ankara, Turkey. Pediatr Hematol Oncol, 2009; 26(1):11-29
8- Heijboer H, Brandjes DPM, Buller HR, et al. Deficiencies
of coagulation inhibiting and fibrinolytic proteins in
Sivas Populasyonunda Faktör V Genin Leiden (G1691a) ve Hr2 (A4070g) Polimorfizmleri
183
outpatients with deep-vein thrombosis. N Eng J Med 1990;
323: 1512-6.
9- Basaran N. Faktör V Leiden mutasyonu. Anadolu Kardiyoloji
Dergisi, 2001; 1(4):246.
10- Gurgey A, Tekinalp G, Cinar A, et al. Symptomatic
thrombosis in Turkish neonates, J Pediatr Hematol Oncol,
2004; 26(7): 417-20.
11- Onderoglu L, Baykal C, Al RA, et al. High frequency of
thrombophilic disorders in women with recurrent fetal
miscarriage. Clin Exp Obstet Gynecol, 2006; 33(1): 50-4.
12- Vine AK. Recent advances in haemostasis and thrombosis.
Retina, 2009; 29(1): 1-7.
13- Le Hello C, Blacher J, Conard J et al. Thrombophilias and
peripheral arterial occlusive disease. J Mal Vasc 2008; 33(3): 126-
36.
14- Bolaman Z, Ozkul A, Kiylioglu N, et al. Hereditary
thrombophilic factors in stroke due to cerebral infarct. Am J Med
Sci.. 2009; 337(1):11-3.
15- Altinisik J, Ates O, Ulutin T, et al. Factor V Leiden, prothrombin
G20210A, and protein C mutation frequency in Turkish venous
thrombosis patients. Clin Appl Thromb Hemost 2008; 14(4):415-
20.
16- Dahlback B. Resistance to activated protein C and venous
thrombolism. Clin J Invest 1994; 923-7.
17- Rees DC, Cos M., Clegg JB. World distribution of factor V
Leiden. Lancet 1995; 346:1133-4.
18- Wayne W,John H, Annette K et al. American College of Medical
Genetics Consensus Statement on Factor V Leiden Mutation
Testing. ACGM Statement March/April 2001; 3(2): 139-48.
19- Ridker PM, Hennekens CH, Lindpaintner K, et al. Mutation
in the gene coding for coagulation factor V and the risk of
myocardial infarction, stroke, and venous thrombosis in
apparently healthy men. New Eng J Med 1995;332: 912-7.
20- Gürgey A, Mesci L. The prevalance of factor V Leiden (1691 G--
>A) mutation in Turkey. Turk J Pediatr 1997;39(3):313-5.
21- Kabukcu S, Keskin N, Keskin A et al. 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. Clin. and App.
Thromb/Hemos. 2007;13 (2):166-71.
22- Akar N, Akar E, Dalgın G, et al. Frequency of factor V 1691(GA)
mutation in Turkish population. Thromb Haemost 1997;
78:1527-8.
23- Bernardi F, Faioni EM, Castoldi E et al. A factor V genetic
component differing from factor V R506Q contributes to the
activated protein C resistance phenotype. Blood 1997;90:1552–7.
24- Benson JM, Ellingsen D, El-Jamil M, et al. Factor V Leiden and
factor V R2 allele: highthroughput analysis and association with
venous thromboembolism. Thromb Haemost 2001;86:1188– 92.
25- Pecheniuk NM, Morris CP, Walsh TP et al. The factor V HR2
haplotype: prevalance and association of the A4070G and
A6755G polymorphisms. Br J Haematol 1997;99:257– 61.
26- Jadaon MM, Dashti AA. HR2 haplotype in Arab population and
patients with venous thrombosis in Kuwait. J Thromb Haemost
2005;3:1467–71.
27- 28-Akar N, Yilmaz E, Akar E et al. Factor V (His1299 Arg) in
young Turkish patients with cerebral infarct. Haemostasis
2000;30:118- 22.
28- Pecheniuk NM, Morris CP, Walsh TP, et al. The factor V HR2
haplotype: prevalence and association of the A4070G and
A6755G polymorphisms. Blood Coagul Fibrinolysis 2001; 12:
201–6.
29- Bernardi F, Faioni EM, Castoldi E, et al. A factor V genetic
component differing from factor V R506Q contributes to the
activated protein C resistance phenotype. Blood 1997; 90: 1552–
7.
30- Jadaon MM. and Dashti AA., HR2 haplotype in Arab population
and patients with venous thrombosis in Kuwait. J Thromb
Haemost (2005);(3): 1467–71.
31- Yanqing H, Fangping C, Qinzhi X, et al. No association between
thrombosis and factor V gene polymorphisms in Chinese Han
population. Thromb Haemost 2003; 89: 446–51.

Thank you for copying data from http://www.arastirmax.com