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Genotipificación y sus aplicaciones, una mirada hacia el futuro / Genotyping and its applications, a look to the future

Guillermo Escamilla-Guerrero, Juan Carlos García-Rosales

Resumen


Resumen

La detección de los antígenos eritrocitarios más significativos presentes en cada uno de los individuos es fundamental cuando se lleva a cabo una transfusión o un trasplante. La detección a la fecha se realiza mediante métodos serológicos convencionales a través de la reacción de antígeno-anticuerpo. Pero se pueden presentar varios inconvenientes dependiendo de la patología en estudio, lo cual limita la disponibilidad de los hemocomponentes. Los métodos moleculares, como la genotipificación, son una herramienta que complementa la sensibilidad y especificidad y que han venido a revolucionar la inmunohematología en el banco de sangre, lo cual permite no solo la detención de antígenos eritrocitarios sino también la de antígenos plaquetarios. Estas metodologías son aplicables en pacientes y en donantes a gran escala, partiendo de las variantes alélicas presentes en cada uno de los genes que codifican para los antígenos de interés clínico, utilizando los sistemas de microarreglos o los sistemas basados en partículas marcadas con sondas específicas o sus variantes que permiten un análisis desde el punto de vista inmunohematológico.

 

Abstract

The detection of the most significant erythrocyte antigens present in each one of the individuals is fundamental when carrying out a transfusion or a transplant. Detection to date is performed by conventional serological methods through the antigen-antibody reaction. But several drawbacks may arise depending on the pathology under study, limiting the availability of blood components. Molecular methods such as genotyping is a tool that complements sensitivity and specificity and has come to revolutionize immunohematology in the blood bank, allowing not only the detection of erythrocyte antigens but also platelet antigens. These methodologies are applicable in patients and in large-scale donors, starting from the allelic variants present in each of the genes that code for the antigens of clinical interest, using microarray systems or systems based on particles labeled with specific probes or their variants that allow an analysis from the immunohematological point of view.

 


Palabras clave


Genotipificación; Sondas de ADN; Antígenos Plaquetarios Humanos; Plaquetas / Genotyping; DNA Probes; Human Platelet Antigen; Blood Platelets

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Referencias


 

Pierce B. Genética. Un enfoque conceptual. Quinta edición. Panamericana; 2016.

 

Gascón P. La revolución genómica: origen y perspectivas. Primera edición. México: Universidad Autónoma Metropolitana; 2004. pp. 17-50.

 

Fürst D, Tsamadou C. Neuchel C, Schrezenmeier H, Mytilineos J, Weinstock C. Next-Generation Sequencing Technologies in Blood Group Typing. Transfus Med Hemother 2020; 47:4-13. doi.org/10.1159/000504765.

 

Storry JR, Olsson ML. Genetic basis of blood group diversity. Br J Haematol. 2004;126(6):759-71. doi: 10.1111/j.1365-2141.2004.05065.x.

 

Castilho L. Molecular typing of blood group genes in diagnosis. Ann Blood 2021;6:20. doi.org/10.21037/aob-20-73.

 

International Society of Blood Transfusion. Red Cell Immunogenetics and Blood Group Terminology. Amsterdam, The Nederlands: ISBT; 2022. Disponible en: https://www.isbtweb.org/isbt-working-parties/rcibgt.html.

 

Funk MK, Eder AF. Technical Manual - AABB. 19th ed. AABB; 2017.

 

Lögdberg L, Reid ME, Zelinski T. Human blood group genes 2010: chromosomal locations and cloning strategies revisited. Transfus Med Rev. 2011;25(1):36-46. doi: 10.1016/j.tmrv.2010.08.005.

 

Gomez-M JE. Biología Molecular: principios y aplicaciones, Capítulo 6. Colombia: Corporación para Investigaciones Biológicas; 2011. pp. 77-89.

 

Höher G, Fiegenbaum M, Almeida S. Molecular basis of the Duffy blood group system. Blood Transfus. 2018;16(1):93-100. doi: 10.2450/2017.0119-16.

 

Patnaik SK, Helmberg W, Blumenfeld OO. BGMUT Database of Allelic Variants of Genes Encoding Human Blood Group Antigens. Transfus Med Hemother. 2014;41(5):346-51. doi: 10.1159/000366108.

 

Daniels G. Human Blood Groups. Bristol, UK: Weley Blackwell; 2013.

 

Mankelow TJ, Burton N, Stefansdottir FO, Spring FA, Parsons SF, Pedersen JS, et al. The Laminin 511/521-binding site on the Lutheran blood group glycoprotein is located at the flexible junction of Ig domains 2 and 3. Blood. 2007;110(9):3398-406. doi: 10.1182/blood-2007-06-094748.

 

Hayashi T, Hirayama F. Advances in alloimmune thrombocytopenia: perspectives on current concepts of human platelet antigens, antibody detection strategies, and genotyping. Blood Transfus. 2015;13;380-90.

 

Soler Noda G, Romero Díaz Y, Forrellat Barrios M, Bencomo Hernández A. Conocimientos actuales sobre la patogénesis, presentación clínica, diagnóstico y manejo de la trombocitopenia neonatal aloinmune. Rev Cubana Pediatr. 2019 Sep;91(3):e513. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-5312019000300009&lng=es. Epub 01-Sep-2019.

 

Silvestre APA, Zacarias JMV, Guelsin GAS, Visentainer JEL, Sell AM. Genetic polymorphisms of human platelet antigens in Euro-African and Japanese descendants from Parana, Southern Brazil. Platelets. 2017;28(6):607-10. doi: 10.1080/09537104.2016.1257785.

 

Mangerona CM, Garcia FB, Moraes-Souza H. Frequency of human platelet antigens (HPA)-1, -2, -5 and -15 in Brazilian blood donors and establishment of a panel of HPA-typed donors. Transfus Med. 2015;25(3):189-94. doi: 10.1111/tme.12210.

 

Curtis BR, McFarland JG. Human platelet antigens - 2013. Vox Sang. 2014;106(2):93-102. doi: 10.1111/vox.12085.

 

Ahlen MT. Serological and molecular typing in platelet alloantibody investigations. ISBT Science Series(2020)15, 70-6. doi: 10.1111/voxs.12535.

 

Bakanay SM, Ozturk A, Ileri T, Ince E, Yavasoglu S, Akar N, et al. Blood group genotyping in multi-transfused patients. Transfus Apher Sci. 2013;48(2):257-61. doi: 10.1016/j.transci.2013.01.009.

 

Singer ST, Wu V, Mignacca R, Kuypers FA, Morel P, Vichinsky EP. Alloimmunization and erythrocyte autoimmunization in transfusion-dependent thalassemia patients of predominantly asian descent. Blood. 2000;96(10):3369-73.

 

Wang LY, Liang DC, Liu HC, Chang FC, Wang CL, Chan YS, et al. Alloimmunization among patients with transfusion-dependent thalassemia in Taiwan. Transfus Med. 2006;16(3):200-3. doi: 10.1111/j.1365-3148.2006.00656.x.

 

Karimi M, Nikrooz P, Kashef S, Jamalian N, Davatolhagh Z. RBC alloimmunization in blood transfusion-dependent beta-thalassemia patients in southern Iran. Int J Lab Hematol. 2007;29(5):321-6. doi: 10.1111/j.1365-2257.2006.00856.x.

 

Vichinsky EP, Earles A, Johnson RA, Hoag MS, Williams A, Lubin B. Alloimmunization in sickle cell anemia and transfusion of racially unmatched blood. N Engl J Med. 1990;322(23):1617-21. doi: 10.1056/NEJM199006073222301.

 

Muñiz-Díaz E, Martínez C, Madoz P. Refractariedad a las transfusiones de plaquetas. Med Clin (Barc). 2003;120(14):544-9.

 

Reid ME. Transfusion in the age of molecular diagnostics. Hematology Am Soc Hematol Educ Program. 2009:171-7. doi: 10.1182/asheducation-2009.1.171.

 

Al-Ouda SK, Al-Banyan AA, Abdel Gader AG, Bayoumy NM, Al-Gahtani FH. Gene frequency of human platelet alloantigens-1 to -6 and -15 in Saudi blood donors. Transfus Med. 2016 Jun;26(3):220-4. doi: 10.1111/tme.12297.

 

Reid ME, Rios M, Powell VI, Charles-Pierre D, Malavade V. DNA from blood samples can be used to genotype patients who have recently received a transfusion. Transfusion. 2000;40(1):48-53. doi: 10.1046/j.1537-2995.2000.40010048.x.

 

DiGuardo MA, Kester SJ, Mahaffey VJ, Hammel SA, Heaser KK, Hofich CD, et al. Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results? J Pers Med. 2020;10(4):268. doi: 10.3390/jpm10040268.

 

Hashmi G, Shariff T, Seul M, Vissavajjhala P, Hue-Roye K, Charles-Pierre D, et al. A flexible array format for large-scale, rapid blood group DNA typing. Transfusion. 2005;45(5):680-8. doi: 10.1111/j.1537-2995.2005.04362.x. Erratum in: Transfusion. 2005 Jun;45(6):1045.

 

Hashmi G, Shariff T, Zhang Y, Cristobal J, Chau C, Seul M, et al. Determination of 24 minor red blood cell antigens for more than 2000 blood donors by high-throughput DNA analysis. Transfusion. 2007;47(4):736-47. doi: 10.1111/j.1537-2995.2007.01178.x. Erratum in: Transfusion. 2007;47(5):952.

 

Immucor PreciseType. HEA Molecular BeadChip Test. Warren, NJ: Immucor; April 2014. Disponible en: https://www.fda.gov/media/88548/download.

 

Griffols, Innovative Diagnostic Solutions. BLOODchip ID CORE XT.Griffols: [sin lugar de publicación]; 2018.

 

Avent ND. Large-scale blood group genotyping: clinical implications. Br J Haematol. 2009;144(1):3-13. doi: 10.1111/j.1365-2141.2008.07285.x.

 

Tounsi WA, Madgett TE, Avent ND. Complete RHD next-generation sequencing: establishment of reference RHD alleles. Blood Adv. 2018 Oct;2(20):2713–23. doi: 10.1182/bloodadvances.2018017871.

 

Palacajornsuk P, Halter C, Isakova V, Tarnawski M, Farmar J, Reid ME, et al. Detection of blood group genes using multiplex SNaPshot method. Transfusion. 2009;49(4):740-9. doi: 10.1111/j.1537-2995.2008.02053.x Erratum in: Transfusion. 2009 Sep;49(9);2012.

 

van Dijk EL, Jaszczyszyn Y, Naquin D, Thermes C. The Third Revolution in Sequencing Technology. Trends Genet. 2018;34(9):666-81. doi: 10.1016/j.tig.2018.05.008.

 

Denomme GA, Flegel WA. Applying molecular immunohematology discoveries to standards of practice in blood banks: now is the time. Transfusion. 2008;48(11):2461-75. doi: 10.1111/j.1537-2995.2008.01855.x.

 

Castilho L, Rios M, Bianco C, Pellegrino J Jr, Alberto FL, Saad ST, et al. DNA-based typing of blood groups for the management of multiply-transfused sickle cell disease patients. Transfusion. 2002;42(2):232-8. doi: 10.1046/j.1537-2995.2002.00029.x.

 

Castilho L, Rios M, Pellegrino J Jr, Saad STO, F Costa F. Blood group genotyping facilitates transfusion of beta-thalassemia patients. J Clin Lab Anal. 2002;16(5):216-20. doi: 10.1002/jcla.10044.

 

Fasano RM, Chou ST. Red Blood Cell Antigen Genotyping for Sickle Cell Disease, Thalassemia, and Other Transfusion Complications. Transfus Med Rev. 2016;30(4):197-201. doi: 10.1016/j.tmrv.2016.05.011.

 

Matteocci A, Pierelli L. Red blood cell alloimmunization in sickle cell disease and in thalassaemia: current status, future perspectives and potential role of molecular typing. Vox Sang. 2014;106(3):197-208. doi: 10.1111/vox.12086.

 

Tahhan HR, Holbrook CT, Braddy LR, Brewer LD, Christie JD. Antigen-matched donor blood in the transfusion management of patients with sickle cell disease. Transfusion. 1994;34(7):562-9. doi: 10.1046/j.1537-2995.1994.34794330008.x.

 

Miranda R, Leal I, TDD Santos TDD, Gilli S, Castilho L. Impact of prophylactic red blood cell (RBC) transfusion with extended antigen matching on alloimmunization in patients with sickle cell disease (SCD). Hematology, Transfusion and Cell Therapy. 2021;43 Suppl 1:S322. doi: 10.1016/j.htct.2021.10.546.

 

Ziman A, Cohn C, Carey PM, Dunbar NM, Fung MK, Greinacher A, et al; the Biomedical Excellence for Safer Transfusion (BEST) Collaborative. Warm-reactive (immunoglobulin G) autoantibodies and laboratory testing best practices: review of the literature and survey of current practice. Transfusion. 2017;57(2):463-77. doi: 10.1111/trf.13903.

 

Scharberg E, Rink G, Portegys J, Rothenberger S, Gillhuber N, Richter E, et al. The Impact of Using Genotyped Reagent Red Blood Cells in Antibody Identification. Transfus Med Hemother. 2018;45(4):218-24. doi: 10.1159/000491884.

 

Perez-Alvarez I, Hayes C, Hailemariam T, Shin E, Hutchinson T, Klapper E. RHD genotyping of serologic RhD-negative blood donors in a hospital-based blood donor center. Transfusion. 2019;59(7):2422-8. doi: 10.1111/trf.15325.

 

Dezan MR, Oliveira VB, Gomes ÇN, Luz F, Gallucci AJ, Bonifácio SL, et al. High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak-D phenotype. J Clin Lab Anal. 2018;32(9):e22596. doi: 10.1002/jcla.22596.

 

Kappler-Gratias S, Auxerre C, Dubeaux I, Beolet M, Ripaux M, Le Pennec PY, et al. Systematic RH genotyping and variant identification in French donors of African origin. Blood Transfus. 2014;12 Suppl 1(Suppl 1):s264-72. doi: 10.2450/2013.0270-12.

 

Trueba R, Baptista H. Genotipificación de antígenos plaquetario en donantes recurrente. Rev Mex Med Trans. 2015;Supl 1:067.

 

Trueba R, Baptista H. Genotipificación de diversos grupos sanguíneo en donadores recurrente. Rev Mex Med Trans. 2015;Supl 1:068.

 

Padilla E, Murrieta S. Reporte de un caso de incompatibilidad sanguínea no concordante entre el genotipo y el fenotipo en el centro médico naval. Rev Mex Med Trans. 2019;Supl 1: S20-21.


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