GENETIC BASIS OF HUMAN BLOOD GROUP FORMATION

Main Article Content

Authors

P.V. Tarlykov

National Center for Biotechnology, Valikhanov str. 13/1, Astana, 010000, Kazakhstan

U.A. Kozhamkulov

National Center for Biotechnology, Valikhanov str. 13/1, Astana, 010000, Kazakhstan

E.M. Ramankulov

National Center for Biotechnology, Valikhanov str. 13/1, Astana, 010000, Kazakhstan

Abstract

Study of the genetic features of blood group antigens has started over 20 years ago. During this time, a variety of DNA-based methods for determining blood groups has been developed. The most significant advantage of genetic approach was to determine the blood group of the fetus in pregnancies with possible development of hemolytic disease of the fetus. At the same time the use of genetic testing with mandatory serological assay is not always necessary for the recipient. Nevertheless, the use of DNA testing to verify the phenotype can help to more accurately match donated blood for patients with a predisposition to alloimmunization, such as those who suffer from anemia. In addition, identification of the genetic structure of the loci responsible for the expression of erythrocyte antigens can help to avoid errors in determining blood groups associated with limitations of immunological methods. Therefore, the use of genetic testing will be in demand in blood transfusion centers when correct typing of a blood group with the use of agglutination method is under question.

Keywords

blood type, rhesus, alloimmunization, DNA-based testing, transfusion medicine, anemia

Article Details

References

Dunbar N.M., Ornstein D.L., Dumont L.J. ABO incompatible platelets: risks versus benefit. Current opinion in hematology, 2012, vol. 19, no. 6, pp. 475-479.

Berseus O., Boman K., Nessen S.C., Westerberg L.A. Risks of hemolysis due to anti-A and anti-B caused by the transfusion of blood or blood components containing ABO-incompatible plasma. Transfusion, 2013, vol. 53, suppl 1, pp. 114S-123S.

Izetbegovic S. Occurrence of ABO and RhD Incompatibility with Rh Negative Mothers. Materia socio-medica, 2013, vol. 25, no. 4, pp. 255-258.

Koloskov А. Kak povysit immunologicheskuyu bezopasnost gemotransfuzionnoy terapii?[How to increase the immunological safety of transfusion therapy?]. Meditsinskaya gazeta. Nauka i praktika - Medical Newspaper. Science and Practice, 2006, 27 oct. no. 82, pp. 12-15.

Daniels G.L., Fletcher A., Garratty G., et al. Blood group terminology 2004: from the International Society of Blood Transfusion committee on terminology for red cell surface antigens. Vox Sang, 2004, vol. 87, pp. 304-316.

Daniels G.L., Flegel W.A., Fletcher A., et al. International Society of Blood Transfusion Committee on Terminology for Red Cell Surface Antigens: Cape Town report. Vox Sang, 2007, vol. 92, pp. 250-253.

Lin M. Taiwan experience suggests that RhD typing for blood transfusion is unnecessary in southeast Asian populations. Transfusion, 2006, vol. 46, no. 1, pp. 95-98.

Chapman J.F., Milkins C., Voak D. The computer crossmatch: a safe alternative to the serological crossmatch. Transfus Med, 2000, vol. 10, pp. 251-256.

Vichinsky E.P., Earles A., Johnson R.A., et al. Alloimmunization in sickle-cell anemia and transfusion of racially unmatched blood. N Engl J Med., 1990, vol. 322, pp. 1617-1621.

Josephson C.D., Su L.L., Hillyer K.L., et al. Transfusion in the patient with sickle cell disease. A critical review of the literature and transfusion guidelines. Transfus Med Rev, 2007, vol. 21, pp. 118-133.

Yamamoto F., Clausen H., White T., et al. Molecular genetic basis of the histo-blood group ABO system. Nature, 1990, vol. 345, pp. 229-233.

Patenaude S.I., Seto NOL, Borisova S.N., et al. The structural basis for specificity in human ABO(H) blood group biosynthesis. Nat Struct Biol., 2002, vol. 9, pp. 685-690.

Lee H.J., Barry C.H., Borisova S.N., et al. Structural basis for the inactivity of human blood group O2 glycosyltransferase. J Biol Chem., 2005, vol. 280, pp. 525-529.

Storry J.R., Carter V., Helberg A., et al. Pre-transplantation confirmatory ABO genotyping reveals a novel non-deletional O allele. Vox Sang, 2008, vol. 95, suppl 1, pp. 178.

Cherif-Zahar B., Bloy C., Le Van Kim, et al. Molecular cloning and protein structure of a human blood group Rh polypeptide. Proc Natl Acad Sci USA, 1990, vol. 87, pp. 6243-6247.

Avent N.D., Ridgwell K., Tanner M.J.A., et al. cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression. Biochem J., 1990, vol. 271, no. 3, pp. 821-825.

Le Van Kim C., Mouro I., Cherif-Zahar B., et al. Molecular cloning and primary structure of the human blood group RhD polypeptide. Proc Natl Acad Sci USA, 1992, vol. 89, pp. 10925-10929.

Kajii E., Umenishi F., Iwamoto S., et al. Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system. Hum Genet, 1993, vol. 91, pp. 157-162.

Arce M.A., Thompson E.S., Wagner S., et al. Molecular cloning of RhD cDNA derived from a gene present in Rh-positive, but not Rh-negative individuals. Blood, 1993, vol. 82, pp. 651-655.

Wiener A.S. The Rh series of allelic genes. Science, 1944, vol. 100, pp. 595-597.

Fisher R.A., Race R.R. An “incomplete” antibody in human serum. Nature, 1944, vol. 153, pp. 771-772.

Mouro I., Colin Y., Cherif-Zahar B., et al. Molecular genetic basis of the human Rhesus blood group system. Nat Genet, 1993, vol. 5, pp. 62-65.

Smythe J.S., Avent N.D., Judson P.A., et al. Expression of RHD and RHCE gene products using retroviral transduction of K562 cells establishes the molecular basis of Rh blood group antigens. Blood, 1996, vol. 87, no. 7, pp. 2968-2973.

Colin Y., Cherif-Zahar B., Le Van Kim C., et al. Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood, 1991, vol. 78, pp. 2747-2752.

Singleton B.K., Green C.A., Avent N.D., et al. The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in Africans with the RhD negative blood group phenotype. Blood, 2000, vol. 95, pp. 12-18.

Yan L., Wu J., Zhu F., et al. Molecular basis of D variants in Chinese persons. Transfusion, 2007, vol. 47, pp. 471-477.

Bowman J. Thirty-five years of Rh prophylaxis. Transfusion, 2003, vol. 43, pp. 1661-1666.

Zucker M., Zivelin A., Teitel J., et al. Induction of an inhibitor to factor XI in a patient with severe inherited factor XI deficiency by Rh immune globulin. Blood, 2008, vol. 111, pp. 1309-1308.

Lo Y.M.D., Corbetta N., Chamberlain P.F., et al. Presence of fetal DNA in maternal plasma and serum. Lancet, 1997, vol. 350, pp. 485-487.

Daniels G.L., Finning K., Martin P., et al. Fetal blood group typing. Present and future. Ann NY Acad Sci, 2006, vol. 1075, pp. 88-95.

Van der Schoot C.E., Soussan A.A., Koelewijn J., et al. Non-invasive antenatal RHD typing. Transf Clin Biol., 2006, vol. 13, pp. 53-57.

Finning K., Martin P., Summers J., et al. Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study. BMJ, 2008, vol. 336, pp. 816-818.

Finning K,, Martin P,, Summers J,, et al. Fetal genotyping for the K(Kell) and Rh C.c and E blood groups on cell-free fetal DNA in maternal plasma. Transfusion, 2007, vol. 47, pp. 2126-2133.

Anstee D.J. Goodbye to agglutination and all that? Transfusion, 2005, vol. 45, pp. 652-653.

Westhoff C,M. Molecular genotyping for RHD: what (not) to do? Transfusion, 2007, vol. 47, pp. 1337-1339.

Daniels G.L., Poole G., Poole J. Partial D and weak D: can they be distinguished? Transfus Med, 2007, vol. 17, pp. 145-146.

Klein H.G., Anstee D.J. Mollison's Blood Transfusion in Clinical Medicine. 11th Ed. Oxford, United Kingdom: Blackwell Publishing, 2005, pp. 496-545.

Castilho L., Rios M., Rodrigues A., et al. High frequency of partial DIIIa and DAR alleles found in sickle cell patients suggests increased risk of alloimmunization to RhD. Transfus Med, 2005, vol. 15, pp. 49-55.

Lee S. The value of DNA analysis for antigens of the Kell and Kx blood group systems. Transfusion, 2007, vol. 47, pp. 32S-39S.

Caine M.E., Mueller-Heubach E. Kell sensitization in pregnancy. Am J Obstet Gynecol, 1986, vol. 154, pp. 85-90.

Finning K., Martin P., Summers J., et al. Fetal genotyping for the K(Kell) and Rh C.c and E blood groups on cell-free fetal DNA in maternal plasma. Transfusion, 2007, vol. 47, pp. 2126-2133.

Chaudhuri A., Polyakova J., Zbrzezna V., et al. Cloning of glycoprotein D cDNA, which encodes the major subunit of the Duffy blood group system and the receptor for Plasmodium vivax malaria parasite. Proc Natl Acad Sci USA, 1993, vol. 90, pp. 10793-10797.

Iwamoto S., Li J., Omi T., et al. Identification of a novel exon and spliced form of Duffy mRNA that is the predominant transcript in both erythroid and postcapillary venule endothelium. Blood, 1996, vol. 87, pp. 378-385.

Mallinson G., Soo K.S., Schall T.J, et al. Mutations in the erythrocyte chemokine receptor (Duffy) gene: the molecular basis of the Fya/Fyb antigens and identification of a deletion in the Duffy gene of an apparently healthy individual with the Fy(a-b-) phenotype. Br J Haematol, 1995, vol. 90, pp. 823-829.

Castilho L. The value of DNA analysis for antigens in the Duffy blood group system. Transfusion, 2007, vol. 47, pp. 28S-31S.

Gubin A.N., Njoroge J.M., Wojda U., et al. Identification of the Dombrock blood group glycoprotein as a polymorphic member of the ADP-ribosyltransferase gene family. Blood, 2000, vol. 96, no. 7, pp. 2621-2627.

Smith B.L., Preston G.M., Spring F.A., Anstee D.J., Agre P. Human red cell Aquaporin CHIP I. Molecular characterization of ABH and Colton blood group antigens. J Clin Invest, 1994, vol. 94, pp. 1043-1049.

Anstee D.J. Red cell genotyping and the future of pretransfusion testing. Blood, 2009, vol. 114, no. 2, рр. 248-56.

Burton N.M., Anstee D.J. Structure, function and significance of Rh proteins in red cells. Curr Opin Hematol, 2008, vol. 15, pp. 625-630.