Prevalence of prothrombin gene mutation (G-A 20210 A) in general population: A pilot study

Clinical and Applied Thrombosis/Hemostasis

Volumn 12, Issue 2, 2006, Pages 223-226

  Naeem, Muhammad Abdul ^a   Anwar, Masood ^a,b   Ali, Waqar ^a   Ayyub, Muhammad ^a   Nasiruddin, ^a  

^a ARMED FORCES INSTITUTE OF PATHOLOGY   (Pakistan)

^b ARMY MEDICAL COLLEGE   (Pakistan)

Author keywords

Population genetics; Prothrombin gene; Thrombophilias

Indexed keywords

DNA FRAGMENT; EDETIC ACID; PROTHROMBIN; SILVER NITRATE;

3' UNTRANSLATED REGION; ADULT; ARTICLE; BLOOD; CAUCASIAN; CONFIDENCE INTERVAL; DNA EXTRACTION; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; NORMAL HUMAN; PAKISTAN; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; THROMBOEMBOLISM; WILD TYPE; AGED; EPIDEMIOLOGY; ETHNOLOGY; GENETICS; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PILOT STUDY;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGY, MOLECULAR; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PAKISTAN; PILOT PROJECTS; PREVALENCE; PROTHROMBIN;

EID: 33747781441     PISSN: 10760296     EISSN: None     Source Type: Journal    
DOI: 10.1177/107602960601200212     Document Type: Article

References (18)

1. Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001;344:1222.
2. Bertina RM, Koeleman BP, Koster T. Mutation in the blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64.
3. Egeberg O. Inherited antithrombin III deficiency causing thrombophilia. Thromb Diath Haemorrh 1965;13:516.
4. Griffin JH, Evatt B, Zimmerman TS. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981;68:1370.
5. Discipio RG, Davie EW. Characterization of protein S a gamma carboxyglutamic acid containing protein from bovine and human plasma. Biochemistry 1979;18:899.
6. Beek EA, Characke P, Jackson DP. A new inherited coagulation disorder caused by an abnormal fibrinogen (Fibrinogen Baltimore). Nature 1965;208:143.
7. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated regions of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;89:3698.
8. Aiach M, Gandrille S, Emmerich J. A review of mutations causing deficiencies of antithrombin, protein C and protein S. Thromb Haemost 1995;74:81.
9. Franco RF, Santos SE, Elion J, et al. Prevalence of the G 20210A polymorphism in the 3′-untranslated region of the prothrombion gene in different human populations. Acta Haematol 1998;100:9.
10. Julie J. Pharmacogenomics. Genetics 2001;6:11.
11. Khalid KA, Carol AW, Marios K, Nduna D. Prevalence of 20210 G-A prothrombin variant and its association with CAD in middle Eastern Arab population. Arch Pathol Lab Med 2002;16:1087.
12. Sambrook J, Fritsch EF, Maniatus T. Molecular Cloning: A Laboratory Manual. 2nd ed. New York: Cold Spring Harbor Laboratory, 1989.
13. Rosendaal FR, Doggen CJM, Zivelin A. Geographic distribution of the 20210 G to A prothrobin variant. Thromb Haemostat 1998;79:706.
14. Angelopoulou K, Nicolaides A, Constantinou DC. Prevalence of genetic mutations that predispose to thrombophilia in a Greek Cyproit population. Clin Appl Thromb Haemostat 2000;6:104.
15. Simioni P, Prandoni P, Lensing AWA, et al. Risk for subsequent venous thrombo-embolic complications in carriers of the prothrombin or the factor V gene mutation with a first episode of deep vein thrombosis. Blood 2000;96: 3329.
16. Mercier E, Quere I, Campello C, Mares P. The 20210 allele of the prothrombin gene is frequent in young women with unexplained spinal cord infarction. Blood 1998;92:1840.
17. Rosendaal FR, Siscovick DS, Schwartz SM, et al. A common prothrombin variant (20210 G-A) increase the risk of myocardial infarction in young women. Blood 1997;90:1747.
18. Kupferminc MJ, Eldor A, Steinman N, et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med 1997;336:9.