GENETIC RISK FACTORS ASSOCIATED WITH THROMBOSIS IN A SAMPLE OF IRAQ POPULATION
DOI:
https://doi.org/10.22270/ijmspr.v2i1.13Keywords:
Thrombosis, F5 gene, Mutation, Genetics risk factors, PCRAbstract
This study aimed to investigate the association of F5 gene Single Nucleotide Polymorphism (SNP) with the incidence of thrombosis. Blood samples were collected from 40 patients during the period from November 2014 to January 2015, from Critical Care Unit (CCU) of (Yarmook Hospital, Kadhimiya Hospital), as well as from 10 unrelated healthy control group. This study found the age group between 50 to 60 are more susceptible to thrombosis 45% and the thrombosis was more frequent in male 55% from female 45% the significant (p<0.01). Deoxyribonucleic acid (DNA) was extracted from whole blood samples, whereas, serum samples were analyzed using troponin test (TNT) for detection of thrombosis. Polymerase Chain Reaction (PCR) was achieved on extracted DNA using eleven specific primers for F5 gene :the first primer (Fve3) with product size (228bp), second primer (Fve4) with product size (310bp), third primer (Fve6) with product size(547bp), fourth primer (Fve7) with product size (241bp), fifth primer (Fve8) with product size (306bp), sixth primer (Fve12) with product size (286bp), seventh primer (Fve13a) with product length (260bp), eighth primer (Fve13c) with product size (317bp), ninth primer (Fve15) with product size (600bp), tenth primer (Fve16) with product size (333bp) and eleventh primer (Fve25) with product size (390bp). PCR products of F5 gene were sequenced. Result found to be change in DNA which was mostly SNP. This change was in three types: substitution 24.86%, insertion 28.57% and deletion 28.57%, a Leiden mutation was also identified among patients><0.01) Deoxyribonucleic acid (DNA) was extracted from whole blood samples, whereas, serum samples were analyzed using troponin test (TNT) for detection of thrombosis. Polymerase Chain Reaction (PCR) was achieved on extracted DNA using eleven specific primers for F5 gene :the first primer (Fve3) with product size (228bp), second primer (Fve4) with product size (310bp), third primer (Fve6) with product size(547bp), fourth primer (Fve7) with product size (241bp), fifth primer (Fve8) with product size (306bp), sixth primer (Fve12) with product size (286bp), seventh primer (Fve13a) with product length (260bp), eighth primer (Fve13c) with product size (317bp), ninth primer (Fve15) with product size (600bp), tenth primer (Fve16) with product size (333bp) and eleventh primer (Fve25) with product size (390bp). PCR products of F5 gene were sequenced. Result found to be change in DNA which was mostly SNP. This change was in three types: substitution 24.86%, insertion 28.57% and deletion 28.57%, a Leiden mutation was also identified among patients
References
Ali N, Hedyeh F T, Mohammad N, Sadaf T, Maryam J H, Fahimeh S T and Seyed R S (2013), “Screening for mutations in 10 exons of the coagulation factor gene”, European J.biology., Vol. 3, No. 3, pp. 589-592.
Asselta R and Peyvandi F (2009), Factor V deficiency SeminThrombHemost ., Vol. 35, No. 4, pp. 382-9.
Asselta R, Tenchini M L and Duga S (2006), “Inherited defects of coagulation factor V: the hemorrhagic side”, J.ThrombHaemost., Vol. 4, No. 1, pp. 26-34.
Castoldi E, Simioni P, Kalafatis M, Lunghi B, Tormene D, Girelli D, Girolami A and Bernardi F (2000), “The prothrom binase complex in a thrombophilic family”, Blood, Vol. 15, No. 4, pp. 1443-8.
Freeman W and Company H (2000)., Genetic Analysis, ISBN., 978(1):4180-5357.
Greer I A (2003), Best Pract Res Clin Obstet Gynaecol., Vol. 17, No. 3, pp. 413-25.
Huang D D, Wang X F and Chen H Y (2010), “Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency”, ZhonghuaXue YeXueZaZhi, Vol. 31, p. 149.
Kumar and Vinay (2007), Robbins Basic Pathology, Philadelphia: Saunders/Elsevier. ISBN: 978(1):4160-2973.
Lewis R (2004), Human Genetics: Concepts and Applications, 6th ed., McGraw Hill. ISBN., 0072951745.
Ossowski S, Schneeberger K and Lucas Lledó J I (2010), “The rate and molecular spectrum of spontaneous mutations”, Science., Vol. 1, No. 5961, pp. 92-4.
Press R D, Bauer K A, Kujovich J L, Heit J A (2002), Arch Pathol Lab Med., Vol. 126, No. 11, pp. 1304-18.
Ren H (2005), “BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpoints”, Human Mutations., Vol. 25, No. 5, pp. 476–482.
Rosendaal F R and Reitsma P H (2009), “Genetics of venous thrombosis”, J.ThrombHaemost., Vol. 1, pp. 301-4.
Saladin and Kenneth S (2012), “Anatomy & Physiology: The Unity of Form and Function”, 6th ed., McGraw-Hill., p. 710.
Sawyer, Stanley A, Parsch J and Zhi Z (2007), “Prevalence of positive selection among nearly neutral amino acid replacements in Drosophila”, Proc. Natl. Acad. Sci. U.S.A. (Washington, DC: National Academy of Sciences)., Vol. 104, No. 16, pp. 6504–6510.
Shinozawa K, Amano K and Suzuki T (2007), “Molecular characterization of 3 factor V mutations, R2174L, V1813M, and a 5-bp deletion that cause factor V deficiency”, Int.J.Hematol., Vol. 86, pp. 407.
Ungprasert P, Ratanapo S and Cheungpasitporn W (2013), “Management in Thoracic Aorta Mural Thrombi: Evidence Based Medicine and Controversy”, Emergency Medicine., Vol. 104, pp. 2165- 7548
Wielgoss S, Barrick J E and Tenaillon O (2011), “Mutation Rate Inferred From Synonymous Substitutions in a Long Term Evolution Experiment With Escherichia coli”, G3 (Bethesda), Vol. 1, No. 3, pp. 183–6.
Yamakage N, Ikejiri M and Okumura K (2006), “A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene”, Haemophilia., Vol. 12, p. 172.
Zammit I W, Mtiraoui N, Mercier E, Abboud N, Saidi S and Mahjoub T (2006), Thromb Haemost., Vol. 95, No. 4, pp. 612-7
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