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Medicina & Laboratorio

2014, Número 01-02

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Medicina & Laboratorio 2014; 20 (01-02)


Biología molecular en medicina: nuevas estrategias que originan nuevos desenlaces

Castro-Álvarez JF, Campuzano-Maya G

Idioma: Español
Referencias bibliográficas: 54
Paginas: 11-42
Archivo PDF: 1815.64 Kb.


RESUMEN

El avance científico y tecnológico de la biología molecular en el mundo trajo un nuevo abordaje de los problemas biológicos, que ha permitido dar paso a una nueva etapa de la investigación científica en la biología, la química y la física, así como a nuevas prácticas en la medicina. El uso de las herramientas de la biología molecular como apoyo diagnóstico en un amplio número de enfermedades infecciosas y de base genética es uno de los campos que mayor desarrollo tiene actualmente en la medicina. Esta área de la práctica médica se circunscribe en el uso de la información genética (ADN y ARN) de los individuos para el diagnóstico y tratamiento de la enfermedad desde la patología molecular y la terapia génica, y actualmente, en el control y prevención de las mismas desde la identificación de factores de riesgo y el uso de esta información en la epidemiología molecular. Este módulo da inicio a una completa selección de temas de medicina y biología molecular que introducirán al lector en el qué, por qué y para qué de las herramientas de la biología molecular que se usan actualmente en los mejores laboratorios clínicos y de investigación en el mundo para la prevención, apoyo diagnóstico y terapéutica de un amplio número de enfermedades.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Lodish H, Berk A, Kaiser CA, Krieger M, Bretscher A, Ploegh H, et al. Molecular Cell Biology (ed 7). New York: W. H. Freeman and Company; 2012.

  2. Katsanis SH, Katsanis N. Molecular genetic testing and the future of clinical genomics. Nat Rev Genet 2013; 14: 415-426.

  3. Watson JD, Crick FH. Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Nature 1953; 171: 737-738.

  4. Jackson DA, Symons RH, Berg P. Biochemical method for inserting new genetic information into DNA of Simian Virus 40: circular SV40 DNA molecules containing lambda phage genes and the galactose operon of Escherichia coli. Proc Natl Acad Sci U S A 1972; 69: 2904-2909.

  5. Arnheim N, Erlich HA, Horn GT, Mullis KB, Saiki RK, Scharf SJ. Process for amplifying, detecting, and/or-cloning nucleic acid sequences. United States of America: Cetus Corporation; 1987.

  6. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921.

  7. Consortium IHGS. Finishing the euchromatic sequence of the human genome. Nature 2004; 431: 931-945.

  8. Chen R, Snyder M. Promise of personalized omics to precision medicine. Wiley Interdiscip Rev Syst Biol Med 2013; 5: 73-82.

  9. Guttmacher AE, Collins FS. Genomic medicine- -a primer. N Engl J Med 2002; 347: 1512-1520.

  10. Feero WG, Guttmacher AE, Collins FS. Genomic medicine--an updated primer. N Engl J Med 2010; 362: 2001-2011.

  11. Green ED, Guyer MS. Charting a course for genomic medicine from base pairs to bedside. Nature 2011; 470: 204-213.

  12. Wilkins MH, Stokes AR, Wilson HR. Molecular structure of deoxypentose nucleic acids. Nature 1953; 171: 738-740.

  13. Watson JD. Molecular Biology of the Gene (ed 5ta). USA: Cold Spring Harbor Laboratory Press; 2003.

  14. Marx V. Epigenetics: Reading the second genomic code. Nature 2012; 491: 143-147.

  15. Egger G, Liang G, Aparicio A, Jones PA. Epigenetics in human disease and prospects for epigenetic therapy. Nature 2004; 429: 457-463.

  16. Esteller M. Non-coding RNAs in human disease. Nat Rev Genet 2011; 12: 861-874.

  17. Tyers M, Mann M. From genomics to proteomics. Nature 2003; 422: 193-197.

  18. Caie PD, Schuur K, Oniscu A, Mullen P, Reynolds PA, Harrison DJ. Human tissue in systems medicine. FEBS J 2013; 280: 5949-5956.

  19. Kitano H. Computational systems biology. Nature 2002; 420: 206-210.

  20. Hengesbach L, Gerlach JA. Specimen Collection, Handling, and Processing. In: Hu P, Hedge MR, Alan P, eds. Modern Clinical Molecular Techniques. New York, US: Springer; 2012: 3-10.

  21. Lahiri DK, Schnabel B. DNA isolation by a rapid method from human blood samples: effects of MgCl2, EDTA, storage time, and temperature on DNA yield and quality. Biochem Genet 1993; 31: 321-328.

  22. Wang H. DNA/RNA Isolation and Quantitation. In: Hu P, Hedge MR, Alan P, eds. Modern Clinical Molecular Techniques. New York, US: Springer; 2012: 11-22.

  23. Zheng YL, Amin ND, Hu YF, Rudrabhatla P, Shukla V, Kanungo J, et al. A 24-residue peptide (p5), derived from p35, the Cdk5 neuronal activator, specifically inhibits Cdk5-p25 hyperactivity and tau hyperphosphorylation. The Journal of biological chemistry 2010; 285: 34202-34212.

  24. McPherson RA, Pincus MR eds. Henry’s clinical diagnosis and management by laboratory methods (ed 22). Philadelphia, US: Elsevier; 2011.

  25. Valencia A, Coffee B. In Vitro Amplification Methods in Molecular Diagnostics In: Hu P, Hedge MR, Alan P, eds. Modern Clinical Molecular Techniques. New York, US: Springer; 2012: 49-66.

  26. Chien A, Edgar DB, Trela JM. Deoxyribonucleic acid polymerase from the extreme thermophile Thermus aquaticus. J Bacteriol 1976; 127: 1550-1557.

  27. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487-491.

  28. Weier HU, Gray JW. A programmable system to perform the polymerase chain reaction. DNA 1988; 7: 441-447.

  29. Dieffenbach CW, Lowe TM, Dveksler GS. General concepts for PCR primer design. PCR Methods Appl 1993; 3: S30-37.

  30. Ririe KM, Rasmussen RP, Wittwer CT. Product differentiation by analysis of DNA melting curves during the polymerase chain reaction. Anal Biochem 1997; 245: 154-160.

  31. Xiong AS, Yao QH, Peng RH, Li X, Fan HQ, Cheng ZM, et al. A simple, rapid, high-fidelity and cost-effective PCR-based two-step DNA synthesis method for long gene sequences. Nucleic Acids Res 2004; 32: e98.

  32. Wang AM, Doyle MV, Mark DF. Quantitation of mRNA by the polymerase chain reaction. Proc Natl Acad Sci U S A 1989; 86: 9717-9721.

  33. Williams PM. The beginnings of real-time PCR. Clin Chem 2009; 55: 833-834.

  34. Heid CA, Stevens J, Livak KJ, Williams PM. Real time quantitative PCR. Genome Res 1996; 6: 986-994.

  35. Ginzinger DG. Gene quantification using real-time quantitative PCR: an emerging technology hits the mainstream. Exp Hematol 2002; 30: 503-512.

  36. Perez EA, Cortes J, Gonzalez-Angulo AM, Bartlett JM. HER2 testing: current status and future directions. Cancer Treat Rev 2014; 40: 276-284.

  37. Rodriguez-Gonzalez FG, Mustafa DA, Mostert B, Sieuwerts AM. The challenge of gene expression profiling in heterogeneous clinical samples. Methods 2013; 59: 47-58.

  38. Mayer G, Muller J, Lunse CE. RNA diagnostics: real-time RT-PCR strategies and promising novel target RNAs. Wiley Interdiscip Rev RNA 2011; 2: 32-41.

  39. Luu MH, Press RD. BCR-ABL PCR testing in chronic myelogenous leukemia: molecular diagnosis for targeted cancer therapy and monitoring. Expert Rev Mol Diagn 2013; 13: 749-762.

  40. Ceulemans S, van der Ven K, Del-Favero J. Targeted screening and validation of copy number variations. Methods Mol Biol 2012; 838: 311-328.

  41. Van Der Pol B. Cobas(R) 4800: a fully automated system for the detection of Chlamydia trachomatis and Neisseria gonorrhoeae. Expert Rev Mol Diagn 2013; 13: 131-140.

  42. Sweet KM, Michaelis RC. The Busy Physician’s Guide To Genetics, Genomics and Personalized Medicine. New York, USA: Springer; 2011.

  43. Hu P, Hedge MR, Alan P eds. Modern Clinical Molecular Techniques. New York, USA: Springer; 2012.

  44. Didenko VV. DNA probes using fluorescence resonance energy transfer (FRET): designs and applications. Biotechniques 2001; 31: 1106-1116, 1118, 1120-1101.

  45. Mangasser-Stephan K, Tag C, Reiser A, Gressner AM. Rapid genotyping of hemochromatosis gene mutations on the Light- Cycler with fluorescent hybridization probes. Clin Chem 1999; 45: 1875-1878.

  46. Balmana J, Diez O, Rubio IT, Cardoso F, Group EGW. BRCA in breast cancer: ESMO Clinical Practice Guidelines. Ann Oncol 2011; 22 Suppl 6: vi31-34.

  47. Spector EB, Grody WW, Matteson CJ, Palomaki GE, Bellissimo DB, Wolff DJ, et al. Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a diseasespecific supplement to the standards and guidelines for clinical genetics laboratories. Genet Med 2005; 7: 444-453.

  48. Smith RA, Cokkinides V, Eyre HJ. Cancer screening in the United States, 2007: a review of current guidelines, practices, and prospects. CA Cancer J Clin 2007; 57: 90-104.

  49. European Association For The Study Of The L. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 2010; 53: 3-22.

  50. Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS, American Association for the Study of Liver D. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011; 54: 328-343.

  51. Maurin M. Real-time PCR as a diagnostic tool for bacterial diseases. Expert Rev Mol Diagn 2012; 12: 731-754.

  52. Espy MJ, Uhl JR, Sloan LM, Buckwalter SP, Jones MF, Vetter EA, et al. Real-time PCR in clinical microbiology: applications for routine laboratory testing. Clin Microbiol Rev 2006; 19: 165-256.

  53. Ayoola A, Barochia A, Belani K, Belani CP. Primary and acquired resistance to epidermal growth factor receptor tyrosine kinase inhibitors in non-small cell lung cancer: an update. Cancer Invest 2012; 30: 433-446.

  54. Van Cutsem E, Nordlinger B, Cervantes A, Group EGW. Advanced colorectal cancer: ESMO Clinical Practice Guidelines for treatment. Ann Oncol 2010; 21 Suppl 5: v93- 97.




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