Keywords
How to Cite
Abstract
Se han cumplido 64 años del descubrimiento de la doble hélice. En 1953 Watson y Crick escribían en la revista Nature: “La importancia del ácido desoxirri-bonucleico (ADN) en las células es indiscutible. El ADN se encuentra en todas las células en división siendo un constituyente esencial de los cromosomas. Muchas líneas de estudio evidencian que en parte (si no todo) el ADN es el portador de la especificidad genética de los cromosomas y por lo tanto el gen en sí mismo. Hasta el momento no se habían descripto Palabras claves: Doble hélice ADN, Watson y Crick, Trombofilia hereditaria.Keywords: DNA double helix Watson & Crick Hereditary thrombophilia.los mecanismos de auto-duplicación. Nosotros aca-bamos de proponer una estructura para la sal del ADN que, de ser correcta, sugiere un mecanismo para su auto-duplicación... La primera figura de nuestra estructura que tiene valor biológico es que consiste en dos cadenas y no una sola... El otro as-pecto biológicamente importante, es la forma en que estas dos cadenas se mantienen juntas.
References
2. Watson J, Crick F. Genetical implications of the structure of deoxyribonucleic acid. Nature. 1953; 171:738-739.
3. Landmark Articles. JAMA. 1993; 269:1966-1967.
4. Editorials: Celebrating 40 years of the double helix. From a theory of biology to the care of patients. JAMA. 1993; 269:1993-1994.
5. Maddox B. The doble helix and the “wronged heroin”. Nature. 2003; 421:407-408.
6. Stephenson MD, Awartani KA, Robinson WP. Cytogenetic analysis of miscarriages from cou-ples with recurrent miscarriages: a case control study. Hum Reprod. 2002; 17:446-451.
7. Ogasawara MS, Ozaki Y, Suzumori N. Poor prognosis of recurrent aborters with either ma-ternal or paternal reciprocal translocation. Fer-til Steril. 2004;81:367-373.
8. Ogasawara MS, Ozaki Y, Suzumori N. Man-agement of recurrent miscarriage. J Obstet Gynecol Res. 2014; 40:1174-1179.
9. Futch T, Spinosa J, Bhatt S et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy form maternal plas-ma DNA samples. Prenatal Diagnosis. 2013; 33:569-574.
10. Briet E, Engesser L, Brommer EJ. Regulation of blood coagulation and thrombosis. Hae-mostasis. 1985; 15(4):228-32.
11. Grand B. Yo Opino: Complicaciones gesta-cionales y trombofilia. Hematología. 2016; 20:70-98.
12. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Throm Diath Haem-orrh. 1965; 13:516-530.
13. Middeldorp S. Inherited thrombophilia: a dou-ble-edged sword. Hematology. 2016; 1-9.14. van Ommen C H, Middeldorp S. Thrombophil-ia in childhood: to test or not to test. Semin Thromb Hemost. 2011; 37(7):794-801.15. Reich L, Bower M and Key N.Role of the ge-neticist in testing and counseling for inherited thrombophilia. Genetics in Medicine. 2003; 5:133–143.16. Stevens S et al. Guidelines for the evaluation and treatment of hereditary thrombophilia and acquired thrombophilia. J Thromb Thrombol-ysis. 2016; 41:154-164.
17. Baglin T, Gray E, Greaves M et al. Clinical guidelines for testing for hereditable thrombo-philia. BJH. 2010; 149:209-220.
18. Preston FE, Rosendal FR, Walker ID et al. Increased fetal loss in women with heritable thrombophilia. Lancet. 1996; 348:913-16.
19. Silver R, Saade G, Thorsten V et al. Factor V Leiden, prothrombin G20210A, and meth-ylene tethrhydrofolate reductase mutations and stillbirth: the Stillbirth Collaborative Re-search Network. Am J Obstet Gynecol. 2016; 215:468.e1-17.
20. ACMG Practice Guideline: Lack of evidence for MTHFR polymorphism testing. Genet Med. 2013; 15(2):153-6.
21. Genetic and Molecular Diagnostic Testing, Ge-netic Testing, Policy No. 20. 2017.
22. Genetic Testing for Inherited Thrombophilia, Medical Policy Manual, Genetic Testing, Pol-icy No. 47. 2017.
23. Genetic Testing for Methionine Metabolism Enzymes, including MTHFR, for Indications Other than Thrombophilia, Genetic Testing, Policy No. 65. 2017.
24. Wang Y, Cheng Q, Meng L, Luo Ch, Hu H et al. Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study. Clin Genet. 2017 Jun;91(6):849-858.
25. Qiao Y, Wen J, Tang F et al. Whole exome se-quencing in recurrent early pregnancy loss. Molecular Human Reproduction. 2016: 22: 364-372.
26. Minasi MM, Fiorentino F, Ruberti R. et al. Ge-netic diseases and aneuploidies can be detect-ed with a single blastocyst biopsy: a success-ful clinical approach. Hum Reprod. 2017 Jun 12:1-8.
27. Precision Medicine in Gynecology and Obstet-rics. Edited by Ikuo Konishi.
28. Grupo Cooperativo Argentino de Hemostasia y Trombosis: Ley de Trombofilia. Hematología. 2016; 20:53-69.
29. Evers JLH. Observations shows, intervention teaches- Claude Bernard. Hum Reprod. 2015; 30:1005.
30. Nap AW, Evers JLH. Couples with infertility belong to a vulnerable group, they should not be exploited. Hum Reprod. 2007; 22:3262-3263.
31. Kupferminc M. Eldor A, Steinman N et al. In-creased frequency of genetic thrombophilia in women with complications of pregnancy. N Eng J Med. 1999; 340:1-11.
All material published in the journal HEMATOLOGÍA (electronic and print version) is transferred to the Argentinean Society of Hematology. In accordance with the copyright Act (Act 11 723), a copyright transfer form will be sent to the authors of approved works, which has to be signed by all the authors before its publication. Authors should keep a copy of the original since the journal is not responsible for damages or losses of the material that was submitted. Authors should send an electronic version to the email: revista@sah.org.ar