2007, Número 3
<< Anterior Siguiente >>
Rev Inst Nal Enf Resp Mex 2007; 20 (3)
Polimorfismos genéticos: Importancia y aplicaciones
Checa CMA
Idioma: Español
Referencias bibliográficas: 52
Paginas: 213-221
Archivo PDF: 94.96 Kb.
RESUMEN
Aproximadamente el 99.9% de la secuencia del ADN de dos individuos diferentes es la misma. Una proporción significativa de las diferencias encontradas en los individuos, es decir, sus diferencias fenotípicas y/o susceptibilidades a ciertas enfermedades, radica en el 0.1% de variación; a este tipo de variaciones genéticas se les conoce como polimorfismos genéticos, los cuales representan diferentes formas en las secuencias de ADN. El estudio de estas variaciones tiene diversas aplicaciones en el campo de la medicina así como en el desarrollo de investigaciones biológicas y de evolución. Esta revisión describe los diferentes tipos de variaciones genéticas que presenta el genoma humano, así como su importancia y posible aplicación en la medicina.
REFERENCIAS (EN ESTE ARTÍCULO)
Saiki RK, Scharf S, Faloona F, et al. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985;230:1350-1354.
Lander ES, Linton LM, Birren N, et al; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921.
Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science 2001;291:1304-1351.
International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004;431:931-945.
Hahn WC, Counter CM, Lundberg AS, Beijersbergen RL, Brooks MW, Weinberg RA. Creation of human tumor cells with defined genetic elements. Nature 1999;400:464-468.
Nebert DW. Polymorphisms in drug-metabolizing enzymes: what is their clinical relevance and why do they exist? Am J Hum Genet 1997;60:265-271.
Sherry ST, Ward M, Sirotkin K. dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res 1999;9:677-679.
Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001;29:308-311.
Collins FS, Guyer MS, Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science 1997;278:1580-1581.
Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet 2003;33 Suppl:228-237.
Lin MT, Storer B, Martin PJ, et al. Relation of an interleukin-10 promoter polymorphism to graft-versus-host disease and survival after hematopoietic-cell transplantation. N Engl J Med 2003;349:2201-2210.
Betticher DC, Thatcher N, Altermatt HJ, Hoban P, Ryder WD, Heighway J. Alternate splicing produces a novel cyclin D1 transcript. Oncogene 1995;11:1005-1011.
Duan J, Wainwright MS, Comeron JM, et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 2003;12:205-216.
Cargill M, Altshuler D, Ireland J, et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999;22:231-238.
Crawford DC, Nickerson DA. Definition and clinical importance of haplotypes. Annu Rev Med 2005;56:303-320.
Weber JL, Wong C. Mutation of human short tandem repeats. Hum Mol Genet 1993;2:1123-1128.
Crawford DC, Akey DT, Nickerson DA. The patterns of natural variation in human genes. Annu Rev Genomics Genet 2005;6:287-312.
Cornelis F, Faure S, Martinez M, et al. New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A 1998;95:10746-10750.
Jawaheer D, Seldin MF, Amos CI, et al. A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. Am J Hum Genet 2001;68:927-936.
MacKay K, Eyre S, Myerscough A, et al. Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom. Arthritis Rheum 2002;46:632-639.
Jawaheer D, Seldin MF, Amos CI, et al. Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families. Arthritis Rheum 2003;48:906-916.
Goldfeld AE, Delgado JC, Thim S, et al. Association of an HLA-DQ allele with clinical tuberculosis. JAMA 1998;279:226-228.
Bellamy R, Ruwende C, Corrah T, McAdam KP, Whittle HC, Hill AV. Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans. N Engl J Med 1998;338:640-644.
Flores-Villanueva PO, Ruiz-Morales JA, Song CH, et al. A functional promoter polymorphism in monocyte chemoattractant protein-1 is associated with increased susceptibility to pulmonary tuberculosis. J Exp Med 2005;202:1649-1658.
Baghdadi JE, Orlova M, Alter A, et al. An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults. J Exp Med 2006; 203:1679-1684.
Israel E, Drazen JM, Liggett SB, et al. Effect of polymorphism of the beta(2)-adrenergic receptor on response to regular use of albuterol in asthma. Int Arch Allergy Immunol 2001;124:183-186.
Koppelman GH, Reijmerink NE, Colin Stine O, et al. Association of a promoter polymorphism of the CD14 gene and atopy. Am J Respir Crit Care Med 2001;163:965-969.
Arima K, Umeshita-Suyama R, Sakata Y, et al. Upregulation of IL-13 concentration in vivo by the IL13 variant associated with bronchial asthma. J Allergy Clin Immunol 2002;109:980-987.
Higham MA, Pride NB, Alikhan A, Morrell NW. Tumour necrosis factor-alpha gene promoter polymorphism in chronic obstructive pulmonary disease. Eur Respir J 2000;15:281-284.
Keatings VM, Cave SJ, Henry MJ, et al. A polymorphism in the tumor necrosis factor-alpha gene promoter region may predispose to a poor prognosis in COPD. Chest 2000;118:971-975.
Yamada N, Yamaya M, Okinaga S, et al. Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am J Hum Genet 2000;66:187-195.
Aron Y, Polla BS, Bienvenu T, Dall’ava J, Dusser D, Hubert D. HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype. Am J Respir Crit Care Med 1999;159(5 Pt 1):1464-1468.
Henry MT, Cave S, Rendall J, et al. An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis. Eur J Hum Genet 2001;9:273-278.
Schaaf BM, Seitzer U, Pravica V, Aries SP, Zabel P. Tumor necrosis factor-alpha-308 promoter gene polymorphism and increased tumor necrosis factor serum bioactivity in farmer’s lung patients. Am J Respir Crit Care Med 2001; 163:379-382.
Pantelidis P, Fanning GC, Wells AU, Welsh KI, Du Bois RM. Analysis of tumor necrosis factor-alpha, lymphotoxin-alpha, tumor necrosis factor receptor II, and interleukin-6 polymorphisms in patients with idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2001;163:1432-1436.
Falfan-Valencia, Camarena A, Juarez A, et al. Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis. Hum Genet 2005;118:235-244.
Vasakova M, Striz I, Slavcev A, et al. Correlation of IL-1alpha and IL-4 gene polymorphisms and clinical parameters in idiopathic pulmonary fibrosis. Scand J Immunol 2007;65:265-270.
Martinetti M, Dugoujon JM, Tinelli C, et al. HLA-Gm/kappam interaction in sarcoidosis. Suggestions for a complex genetic structure. Eur Respir J 2000; 16:74-80.
Petrek M, Drabek J, Kolek V, et al. CC chemokine receptor gene polymorphisms in Czech patients with pulmonary sarcoidosis. Am J Respir Crit Care Med 2000;162(3 Pt 1):1000-1003.
Pritchard JK, Rosenberg NA. Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet 1999;65:220-228.
Mifflin TE, Hamilton SD, Kramear GW, Felder RA. Robotics and automation in genomics laboratories. In: Galas DJ, McCormack SJ, editors. Genomic technologies: present and future. Wymondham, England: Caister Academic Press;2002.p.313-343.
Fischer SG, Lerman LS. DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory. Proc Natl Acad Sci U S A 1983;80:1579-1583.
Hayashi K. PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods Appl 1991;1:34-38.
Underhill PA, Jin L, Lin AA, et al. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res 1997;7:996-1005.
Halushka MK, Fan JB, Bentley K, et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet 1999;22: 239-247.
Kwok PY, Carlson C, Yager TD, Ankener W, Nickerson DA. Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics 1994;23:138-144.
Livak KJ. Allelic discrimination using fluorogenic probes and the 5' nuclease assay. Genet Anal 1999;14:143-149.
Chen J, Iannone MA, Li MS, et al. A microsphere-based assay for multiplexed single nucleotide polymorphism analysis using single base chain extension. Genome Res 2000;10:549-557.
Germer S, Higuchi R. Single-tube genotyping without oligonucleotide probes. Genome Res 1999;9:72-78.
Pastinen T, Raitio M, Lindroos K, Tainola P, Peltonen L, Syvänen AC. A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res 2000;10:1031-1042.
Wong FL, Wang MK, Boo NY, Hamidah NH, Ainoon BO. Rapid detection of the UGT1A1 single nucleotide polymorphism G211A using real-time PCR with Taqman minor groove binder probes. J Clin Lab Anal 2007;21:167-172.
Yang CJ, Medley CD, Tan W. Monitoring nucleic acids using molecular beacons. Curr Pharm Biotechnol 2005;6:445-452.