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Molecular testing in transfusion medicine

, Priv-Doz Dr Med
Pages 411-428 | Published online: 05 Aug 2010

Bibliography

  • Blumenfeld OO. Mutation databases and other online sites as a resource for transfusion medicine: history and attributes. Transfus Med Rev 2002;16:103-14. Human blood group mutation database. Available from: http://www.ncbi.nlm.nih.gov/projects/gv/rbc/xslcgi.fcgi?cmd=bgmut/systems, [Accessed 29 March 2010]
  • Seltsam A, Hallensleben M, Kollmann A, Systematic analysis of the ABO gene diversity within exons 6 and 7 by PCR screening reveals new ABO alleles. Transfusion 2003;43:428-39
  • Hosseini-Maaf B, Hellberg A, Rodrigues MJ, ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase. BMC Genet 2003;4:17
  • Sun CF, Chen DP, Tseng CP, Identification of a novel A1v-O1v hybrid allele with G829A mutation in a chimeric individual of AelBel phenotype. Transfusion 2006;46:780-9
  • Hosseini-Maaf B, Smart E, Chester MA, Olsson ML. The Abantu phenotype in the ABO blood group system is due to a splice-site mutation in a hybrid between a new O1-like allelic lineage and the A2 allele. Vox Sang 2005;88:256-64
  • Calafell F, Roubinet F, Ramirez-Soriano A, Evolutionary dynamics of the human ABO gene. Hum Genet 2008;124:123-35
  • Seltsam A, Das Gupta C, Wagner FF, Blasczyk R. Nondeletional ABO*O alleles express weak blood group A phenotypes. Transfusion 2005;45:359-65
  • Hosseini-Maaf B, Hellberg A, Chester MA, Olsson ML. An extensive polymerase chain reaction-allele-specific polymorphism strategy for clinical ABO blood group genotyping that avoids potential errors caused by null, subgroup, and hybrid alleles. Transfusion 2007;47:2110-25
  • Wagner FF, Flegel WA. RHD gene deletion occurred in the Rhesus box. Blood 2000;95:3662-8
  • Krog GR, Clausen FB, Dziegiel MH. Quantitation of RHD by real-time polymerase chain reaction for determination of RHD zygosity and RHD mosaicism/chimerism: an evaluation of four quantitative methods. Transfusion 2007;47:715-22
  • Schmid P, von Zabern I, Scharberg EA, Specific amino acid substitutions cause distinct expression of JAL (RH48) and JAHK (RH53) antigens in RhCE and not in RhD. Transfusion 2010;50:267-9
  • Hundhausen T, Petershofen EK, Doescher A, RHCE-D-CE hybrid genes can cause false-negative DNA typing of the Rh e antigen. Vox Sang 2002;83:268-72
  • Wagner FF, Moulds JM, Flegel WA. Genetic mechanisms of Rhesus box variation. Transfusion 2005;45:338-44
  • Grootkerk-Tax MG, Maaskant-van Wijk PA, van Drunen J, van der Schoot CE. The highly variable RH locus in nonwhite persons hampers RHD zygosity determination but yields more insight into RH-related evolutionary events. Transfusion 2005;45:327-37
  • Matheson KA, Denomme GA. Novel 3′ Rhesus box sequences confound RHD zygosity assignment. Transfusion 2002;42:645-50
  • Noizat-Pirenne F, Lee K, Pennec PY, Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety. Blood 2002;100:4223-31
  • Vege S, Westhoff CM. Molecular characterization of GYPB and RH in donors in the American Rare Donor Program. Immunohematology 2006;22:143-7
  • Matzhold EM, Helmberg W, Wagner T, Identification of 14 new alleles at the fucosyltransferase 1, 2, and 3 loci in Styrian blood donors, Austria. Transfusion 2009;49:2097-108
  • Mollicone R, Reguigne I, Kelly RJ, Molecular basis for Lewis alpha(1,3/1,4)-fucosyltransferase gene deficiency (FUT3) found in Lewis-negative Indonesian pedigrees. J Biol Chem 1994;269:20987-94
  • Orntoft TF, Vestergaard EM, Holmes E, Influence of Lewis alpha1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels. J Biol Chem 1996;271:32260-8
  • Tournamille C, Colin Y, Cartron JP, Le Van Kim C. Disruption of a GATA motifin the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat Genet 1995;10:224-8
  • Seltsam A, Wagner FF, Gruger D, Weak blood group B phenotypes may be caused by variations in the CCAAT-bindingfactor/NF-Y enhancer region of the ABO gene. Transfusion 2007;47:2330-5
  • Gassner C, Doescher A, Drnovsek TD, Presence of RHD in serologically D-, C/E+individuals: a European multicenter study. Transfusion 2005;45:527-38
  • Doscher A, Vogt C, Bittner R, RHCE alleles detected after weak and/or discrepant results in automated Rh blood grouping of blood donors in Northern Germany. Transfusion 2009;49:1803-11
  • Bugert P, Scharberg EA, Geisen C, RhCE protein variants in Southwestern Germany detected by serologic routine testing. Transfusion 2009;49:1793-802
  • Doescher A, Flegel WA, Petershofen EK, Weak D type 1.1 exemplifies another complexity in weak D genotyping. Transfusion 2005;45:1568-73
  • Ceppellini R, Dunn LC, Turri M. An interaction between alleles at the RH locus in man which weakens the reactivity of the RH(0) factor (D). Proc Natl Acad Sci USA 1955;41:283-8
  • Wagner FF, Frohmajer A, Ladewig B, Weak D alleles express distinct phenotypes. Blood 2000;95:2699-708
  • Karpasitou K, Frison S, Longhi E, A silenced allele in the Colton blood group system. Vox Sang 2010. [Epub ahead of print]
  • Cherif-Zahar B, Matassi G, Raynal V, Molecular defects of the RHCE gene in Rh-deficient individuals of the amorphtype. Blood 1998;92:639-46
  • Wagner FF, Gassner C, Muller TH, Molecular basis of weak D phenotypes. Blood 1999;93:385-93
  • Gubin AN, Njoroge JM, Wojda U, Identification of the dombrock blood group glycoprotein as a polymorphic member of the ADP-ribosyltransferase gene family. Blood 2000;96:2621-7
  • Storry JR, Westhoff CM, Charles-Pierre D, DNA analysis for donor screening of Dombrock blood group antigens. Immunohematology 2003;19:73-6
  • Verran J, Grey D, Bennett J, HPA-1, 3, 5 genotyping to establish a typed platelet donor panel. Pathology. 2000;32:89-93
  • Lee S, Wu X, Reid M, Molecular basis of the Kell (K1)phenotype. Blood 1995;85:912-6
  • Poole J, Daniels G. A novel K allele of the KEL gene. Transfusion 2001;41(Suppl):15S
  • Poole J, Warke N, Hustinx H, A KEL gene encoding serine at position 193 of the Kell glycoprotein results in expression of KEL1 antigen. Transfusion 2006;46:1879-85
  • Lee-Stroka H, Slezak SL, Adams S, Another example of a KEL1 variant red cell phenotype due to athreonine to serine change at position 193 of Kell glycoprotein. Transfusion 2008;48:925-9
  • Lomas-Francis C. DNA-based assays for patient testing: things are not always what they appear to be. Presentation held at AABB Annual Meeting 2008, 6-Oct-2008 eductional programme 9312-TC: value of DNA testing for blood groups in patients and donors. Montreal, Canada
  • Prager M. Molecular genetic blood group typing by the use of PCR-SSP technique. Transfusion 2007;47:54S-9S
  • Gassner C, Schmarda A, Nussbaumer W, Schonitzer D. ABO glycosyltransferase genotyping by polymerase chain reaction using sequence-specific primers. Blood 1996;88:1852-6
  • Gassner C, Schmarda A, Kilga-Nogler S, RHD/CE typing by polymerase chain reaction using sequence-specific primers. Transfusion 1997;37:1020-6
  • Muller TH, Wagner FF, Trockenbacher A, PCR screening for common weak D types shows different distributions in three Central European populations. Transfusion 2001;41:45-52
  • Rozman P, Dovc T, Gassner C. Differentiation of autologous ABO, RHD, RHCE, KEL, JK, and FY blood group genotypes by analysis of peripheral blood samples of patients who have recently received multiple transfusions. Transfusion 2000;40:936-42
  • Lyou JY, Chen YJ, Hu HY, PCR with sequence-specific primer-based simultaneous genotyping of human platelet antigen-1 to -13w. Transfusion 2002;42:1089-95
  • Skogen B, Bellissimo DB, Hessner MJ, Rapid determination of platelet alloantigen genotypes by polymerase chain reaction using allele-specific primers. Transfusion 1994;34:955-60
  • Wagner FF, Bittner R, Petershofen EK, Cost-efficient sequence-specific priming-polymerase chain reaction screening for blood donors with rare phenotypes. Transfusion 2008;48:1169-73
  • Kroll H, Carl B, Santoso S, Workshop report on the genotyping of blood cell alloantigens. Transfus Med 2001;11:211-9
  • Slezak SL, Adams S, Lee-Stroka H, Rapid, single-subject genotyping to predict red blood cell antigen expression. Immunohematology 2008;24:154-9
  • Bray PF, Jin Y, Kickler T. Rapid genotyping of the five major platelet alloantigens by reverse dot-blot hybridization. Blood 1994;84:4361-7
  • Higgins M, Hughes A, Buzzacott N, Lown J. High-throughput genotyping of human platelet antigens using the 5′-nuclease assay and minor groove binder probe technology. Vox Sang 2004;87:114-7
  • Ficko T, Galvani V, Rupreht R, Real-time PCR genotyping of human platelet alloantigens HPA-1, HPA-2, HPA-3 andHPA-5 is superior to the standard PCR-SSP method. Transfus Med 2004;14:425-32
  • Bugert P, McBride S, Smith G, Microarray-based genotyping for blood groups: comparison of gene array and 5′-nuclease assay techniques with human platelet antigen as a model. Transfusion 2005;45:654-9
  • Araujo F, Pereira C, Monteiro F, Blood group antigen profile predicted by molecular biology-use of real-time polymerase chain reaction to genotype important KEL, JK,RHD, and RHCE alleles. Immunohematology 2002;18:59-64
  • Liew M, Nelson L, Margraf R, Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes. J Mol Diagn 2006;8:97-104
  • Ansart-Pirenne H, Martin-Blanc S, Le Pennec PY, FY*X real-time polymerase chain reaction with melting curve analysis associated with a complete one-step real-time FY genotyping. Vox Sang 2007;92:142-7
  • Araujo F, Pereira C, Aleixo A, Rapid genotyping of the major alleles at the Duffy (FY) blood group locus usingreal-time fluorescence polymerase chain reaction. Immunohematology 2001;17:42-4
  • Chen DP, Tseng CP, Lin HT, Sun CF. Application of real-time PCR and melting curve analysis in rapid detection of Ael and Bel blood types. Ann Clin Lab Sci 2005;35:25-30
  • Randen I, Sorensen K, Killie MK, Kjeldsen-Kragh J. Rapid and reliable genotyping of human platelet antigen (HPA)-1, -2, -3, -4, and -5 a/b and Gov a/b by melting curve analysis. Transfusion 2003;43:445-50
  • Nauck MS, Gierens H, Nauck MA, Rapid genotyping of human platelet antigen 1 (HPA-1) with fluorophore-labelled hybridization probes on the LightCycler. Br J Haematol 1999;105:803-10
  • Polin H, Danzer M, Proll J, Introduction of a real-time-based blood-group genotyping approach. Vox Sang 2008;95:125-30
  • Ruan L, Pei B, Li Q. Multicolor real-time polymerase chain reaction genotyping of six human platelet antigens using displacing probes. Transfusion 2007;47:1637-42
  • Legler TJ, Kohler M, Mayr WR, Genotyping of the human platelet antigen systems 1 through 5 by multiplex polymerase chain reaction and ligation-based typing. Transfusion 1996;36:426-31
  • Muller TH, Doscher A, Schunter F. Genotyping of the human platelet antigen-1 by ELISA detection of allele-specific amplicons. Vox Sang 1997;73:185-8
  • St-Louis M, Perreault J, Lemieux R. Extended blood grouping of blood donors with automatable PCR-ELISA genotyping. Transfusion 2003;43:1126-32
  • Wagner FF, Bittner R, Doscher A, Mid-throughput blood group phenotype prediction by pooled capillary electrophoresis [abstract]. Transfusion 2007;47S:SP391
  • Wagner FF, Doscher A, Bittner R, Muller TH. Use of extended blood group typing information as guidance for blood unit distribution [abstract]. Transfusion 2009;49S:SP198
  • Hashmi G, Shariff T, Seul M, A flexible array format for large-scale, rapid blood group DNA typing. Transfusion 2005;45:680-8
  • Karpasitou K, Drago F, Crespiatico L, Blood group genotyping for Jk(a)/Jk(b), Fy(a)/Fy(b), S/s, K/k, Kp(a)/Kp(b), Js(a)/Js(b), Co(a)/Co(b), and Lu(a)/Lu(b) with microarray beads. Transfusion 2008;48:505-12
  • Palacajornsuk P, Halter C, Isakova V, Detection of blood group genes using multiplex SNaPshot method. Transfusion 2009;49:740-9
  • Denomme GA, Van Oene M. High-throughput multiplex single-nucleotide polymorphism analysis for red cell and platelet antigen genotypes. Transfusion 2005;45:660-6
  • Montpetit A, Phillips MS, Mongrain I, High-throughput molecular profiling of blood donors for minor red blood cell and platelet antigens. Transfusion 2006;46:841-8
  • Perreault J, Lavoie J, Painchaud P, Set-up and routine use of a database of 10,555 genotyped blood donors to facilitate the screening of compatible blood components for alloimmunized patients. Vox Sang 2009;97:61-8
  • Beiboer SH, Wieringa-Jelsma T, Maaskant-Van Wijk PA, Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization. Transfusion 2005;45:667-79
  • Avent ND, Martinez A, Flegel WA, The BloodGen project: toward mass-scale comprehensive genotyping of blood donors in the European Union and beyond. Transfusion 2007;47(1 Suppl):40S-6S
  • Garritsen HS, Fan AX, Bosse N, Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry for genotyping of human platelet-specific antigens. Transfusion 2009;49:252-8
  • Hopp K, Weber K, Bellissimo D, High-throughput red blood cell antigen genotyping using a nanofluidic real-time polymerase chain reaction platform. Transfusion 2010;50:40-6
  • Johnson PH, Hopkinson DA. Detection of ABO blood group polymorphism by denaturing gradient gel electrophoresis. Hum Mol Genet 1992;1:341-4
  • Le Marechal C, Guerry C, Benech C, Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis. Transfusion 2007;47:858-63
  • Quintanar A, Jallu V, Legros Y, Kaplan C. Human platelet antigen genotyping using a fluorescent SSCP technique with an automatic sequencer. Br J Haematol 1998;103:437-44
  • Fujiwara K, Tokunaga K, Isa K, DNA-based typing of human platelet antigen systems by polymerase chain reaction-single-strand conformation polymorphism method. Vox Sang 1995;69:347-51
  • Xu X, Zhu F, Ying Y, Simultaneous genotyping of human platelet antigen-1 to 17w by polymerase chain reaction sequence-based typing. Vox Sang 2009;97:330-7
  • Wu GG, Tang QM, Shen WD, DNA sequencing-based typing of HPA-1 to HPA-17w systems. Int J Hematol 2008;88:268-71
  • Eshleman JR, Shakin-Eshleman SH, Church A, DNA typing of the human MN and Ss blood group antigens in amniotic fluid and following massive transfusion. Am J Clin Pathol 1995;103:353-7
  • Reid ME, Rios M, Powell VI, DNA from blood samples can be used to genotype patients who have recently received a transfusion. Transfusion 2000;40:48-53
  • Gong MN, Sai Y, Zhou W, Genotyping patients with recent blood transfusions. Epidemiology 2003;14:744-7
  • Castilho L, Rios M, Bianco C, DNA-based typing of blood groups for the management of multiply-transfused sickle cell disease patients. Transfusion 2002;42:232-8
  • Castilho L, Rios M, Pellegrino J Jr, Blood group genotyping facilitates transfusion of beta-thalassemia patients. J Clin Lab Anal 2002;16:216-20
  • Legler TJ, Eber SW, Lakomek M, Application of RHD and RHCE genotyping for correct blood group determination in chronically transfused patients. Transfusion 1999;39:852-5
  • Kim KH, Kim KE, Woo KS, Primary anti-D immunization by DEL red blood cells. Korean J Lab Med 2009;29:361-5
  • Rios M, Cash K, Strupp A, DNA from urine sediment or buccal cells can be used for blood group molecular genotyping. Immunohematology 1999;15:61-5
  • Wagner FF, Frohmajer A, Flegel WA. RHD positive haplotypes in D negative Europeans. BMC Genet 2001;2:10
  • Flegel WA, von Zabern I, Wagner FF. Six years' experience performing RHD genotyping to confirm D- red blood cell units in Germany for preventing anti-D immunizations. Transfusion 2009;49:465-71
  • Polin H, Danzer M, Hofer K, Effective molecular RHD typing strategy for blood donations. Transfusion 2007;47:1350-5
  • Polin H, Danzer M, Gaszner W, Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria. Transfusion 2009;49:676-81
  • Reid ME. DNA analysis to find rare blood donors when antisera is not available. Vox Sang 2002;83(Suppl 1):91-3
  • Rios M, Hue-Roye K, Lee AH, DNA analysis for the Dombrock polymorphism. Transfusion 2001;41:1143-6
  • Castilho L, Baleotti W Jr, Tossas E, Molecular studies of DO alleles reveal that JO is more prevalent than HY in Brazil, whereas HY is more prevalent in New York. Immunohematology 2008;24:135-7
  • Baleotti W Jr, Rios M, Reid ME, Dombrock gene analysis in Brazilian people reveals novel alleles. Vox Sang 2006;91:81-7
  • Moulds JM, Thomas BJ, Doumbo O, Identification of the Kna/Knb polymorphism and a method for Knops genotyping. Transfusion 2004;44:164-9
  • Wagner FF, Poole J, Flegel WA. Scianna antigens including Rd are expressed by ERMAP. Blood 2003;101:752-7
  • Denomme GA, Dake LR, Vilensky D, Rh discrepancies caused by variable reactivity of partial and weak D types with different serologic techniques. Transfusion 2008;48:473-8
  • Hult A, Hellberg A, Wester ES, Blood group genotype analysis for the quality improvement of reagent test red blood cells. Vox Sang 2005;88:265-70
  • Tahhan HR, Holbrook CT, Braddy LR, Antigen-matched donor blood in the transfusion management of patients with sickle cell disease. Transfusion 1994;34:562-9
  • Castro O, Sandler SG, Houston-Yu P, Rana S. Predicting the effect of transfusing only phenotype-matched RBCs to patients with sickle cell disease: theoretical and practical implications. Transfusion 2002;42:684-90
  • Vichinsky EP, Luban NL, Wright E, Stroke Prevention Trail in Sickle Cell Anemia. Prospective RBC phenotype matching in a stroke-prevention trial in sickle cell anemia: a multicenter transfusion trial. Transfusion 2001;41:1086-92
  • Ambruso DR, Githens JH, Alcorn R, Experience with donors matched for minor blood group antigens in patients with sickle cell anemia who are receiving chronic transfusion therapy. Transfusion 1987;27:94-8
  • Schonewille H, van de Watering LM, Brand A. Additional red blood cell alloantibodies after blood transfusions in a non hematologic alloimmunized patient cohort: is it time to take precautionary measures? Transfusion 2006;46:630-5
  • Ribeiro KR, Guarnieri MH, da Costa DC, DNA array analysis for red blood cell antigens facilitates the transfusion support with antigen-matched blood in patients with sickle cell disease. Vox Sang 2009;97:147-52
  • Klapper E, Zhang Y, Figueroa P, Toward extended phenotype matching: a new operational paradigm for the transfusion service. Transfusion 2010;50:536-46
  • Hashmi G, Shariff T, Zhang Y, Determination of 24 minor red blood cell antigens for more than 2000 blood donors by high-throughput DNA analysis. Transfusion 2007;47:736-47
  • Kormoczi GF, Wagner T, Jungbauer C, Genetic diversity of KELnull and KELel: a nationwide Austrian survey. Transfusion 2007;47:703-14
  • Lau FY, Wong R, Chan NP, Provision of phenotype-matched blood units: no need for pre-transfusion antibody screening. Haematologica 2001;86:742-8
  • Lee SH, Park G, Yang YG, Rapid ABO genotyping using whole blood without DNA purification. Korean J Lab Med 2009;29:231-7
  • Daniels GL, Castilho L, Flegel WA, International Society of Blood Transfusion Committee on terminology for red cell surface antigens: Macao report. Vox Sang 2009;96:153-56
  • Yamamoto F, Clausen H, White T, Molecular genetic basis of the histo-blood group ABO system. Nature 1990;345:229-33
  • Olsson ML, Guerreiro JF, Zago MA, Chester MA. Molecular analysis of the O alleles at the blood group ABO locus in populations of different ethnic origin reveals novel crossing-over events and point mutations. Biochem Biophys Res Commun 1997;234:779-82
  • Wagner FF, Ladewig B, Flegel WA. The RHCE allele ceRT: D epitope 6 expression does not require D-specific amino acids. Transfusion 2003;43:1248-54

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