Association of ABO gene mutations resulting in a rare B subgroup
N. Sousa
Departamento de Farmacologia – FCM – State University of Campinas, Campinas, Brazil
Search for more papers by this authorJ. M. Anicchino-Bizzacchi
Hemocentro UNICAMP – State University of Campinas, Campinas, Brazil
Search for more papers by this authorE. M. Leite
Faculdade de Ciências Farmacêuticas – UNESP, Araraquara, Brazil
Search for more papers by this authorM. F. Locatelli
Hemocentro UNICAMP – State University of Campinas, Campinas, Brazil
Search for more papers by this authorD. Albuquerque
Hemocentro UNICAMP – State University of Campinas, Campinas, Brazil
Search for more papers by this authorF. F. Costa
Hemocentro UNICAMP – State University of Campinas, Campinas, Brazil
Search for more papers by this authorCorresponding Author
M. L. Barjas-Castro
Hemocentro UNICAMP – State University of Campinas, Campinas, Brazil
Correspondence: Maria Lourdes Barjas-Castro, Hemocentro UNICAMP/State University of Campinas – Unicamp, Rua Carlos Chagas, 480, PO Box 6198/CEP: 13083–970, Campinas – SP/Brazil E-mail: [email protected]Search for more papers by this authorN. Sousa
Departamento de Farmacologia – FCM – State University of Campinas, Campinas, Brazil
Search for more papers by this authorJ. M. Anicchino-Bizzacchi
Hemocentro UNICAMP – State University of Campinas, Campinas, Brazil
Search for more papers by this authorE. M. Leite
Faculdade de Ciências Farmacêuticas – UNESP, Araraquara, Brazil
Search for more papers by this authorM. F. Locatelli
Hemocentro UNICAMP – State University of Campinas, Campinas, Brazil
Search for more papers by this authorD. Albuquerque
Hemocentro UNICAMP – State University of Campinas, Campinas, Brazil
Search for more papers by this authorF. F. Costa
Hemocentro UNICAMP – State University of Campinas, Campinas, Brazil
Search for more papers by this authorCorresponding Author
M. L. Barjas-Castro
Hemocentro UNICAMP – State University of Campinas, Campinas, Brazil
Correspondence: Maria Lourdes Barjas-Castro, Hemocentro UNICAMP/State University of Campinas – Unicamp, Rua Carlos Chagas, 480, PO Box 6198/CEP: 13083–970, Campinas – SP/Brazil E-mail: [email protected]Search for more papers by this authorAbstract
Background and Objectives B subgroups are rare and the genetic analysis reported to date has been limited.
Materials and Methods Serological and molecular investigations were performed in blood from a B-subgroup donor.
Results Red cells did not react with anti-B and anti-AB reagents. However, cells absorbed anti-B. Red cells presented positive reactions with anti-H, and saliva secreted H substance. The molecular study demonstrated a B allele with the substitutions 467C>T, 646T>A, 681G>A, 771C>T, 796C>A, 803G>C, 829G>A and an O allele with the sequence of O02.
Conclusions It is probable that the presence in exon 7 of some of the O02 substitutions could have weakened the enzymatic activity of the encoded B transferase.
References
- 1 Yamamoto F, Clausen H, White T, Marken J, Hakomori S: Molecular genetic basis of the histo-blood group ABO system. Nature 1990; 345: 229–233
- 2
Daniels G: Human Blood Groups, edn 2. Oxford, UK, Blackwell Publishing Ltd, 2002
10.1002/9780470987018 Google Scholar
- 3 Ogasawara K, Yabe R, Uchikawa M, Saitou N, Bannai M, Nakata K, Takenaka M, Fujisawa K, Ishikawa Y, Juji T, Tokunaga K: Molecular genetic analysis of variant phenotypes of the ABO blood group system. Blood 1996; 88: 2732–2737
- 4 Ogasawara K, Yabe R, Uchikawa M, Nakata K, Watanabe J, Takahashi Y, Tokunaga K: Recombination and gene conversion-like events may contribute to ABO gene diversity causing various phenotypes. Immunogenetics 2001; 53: 190–199
- 5 Yu L-C, Twu Y-C, Chou M-L, Chang C-Y, Wu C-Y, Lin M: Molecular genetic analysis for the B3 allele. Blood 2002; 100: 1490–1491
- 6
Lin P-H,
Li L,
Lin-Tsai S-J,
Lin K-T,
Chen J-M,
Chu D-C:
A unique 502C>T mutation in exon 7 of ABO gene associated with Bel phenotype in Taiwan.
Transfusion
2003; 43: 1259
10.1046/j.1537-2995.2003.00494.x Google Scholar
- 7 Yamamoto F, McNeill PD, Yamamoto M, Hakomori S, Harris T, Judd WJ, Davenport RD: Molecular genetic analysis of the ABO blood group system: 1 weak subgroups: A3 and B3 alleles. Vox Sang 1993; 64: 116–119
- 8 Olsson ML, Irshaid NM, Hosseini-Maaf B, Hellberg A, Moulds MK, Sareneva H, Chester MA: Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles. Blood 2001; 98: 1585–1593
- 9 Estalote AC, Palatnik M, Chester MA, Olsson ML, Sant’Anna Gomes BM: A novel blood group B subgroup: serological and genetic studies. Transfus Med 2004; 14: 173–180
- 10 Seltsam A, Hallensleben M, Kollmann A, Blasczyk R: The nature of diversity and diversification at the ABO locus. Blood 2003; 102: 3035–3042
- 11 AABB: Technical Manual, edn 14. Bethesda, Maryland, USA, American Association of Blood Banks, 2002
- 12 Olsson ML, Chester MA: Polymorphism and recombination events at ABO locus: a major challenge for genomic ABO blood grouping strategies. Transfus Med 2001; 11: 295–323
- 13 Suzuki K, Iwata M, Tsuji H, Takagi T, Tamura A, Ishimoto G: A de novo recombination in the ABO blood group gene and evidence for the occurrence of recombination products. Hum Genet 1997; 99: 454–461
- 14 Olsson ML, Chester MA: Heterogeneity of the blood group Ax allele: genetic recombination of common alleles can result in the Ax phenotype. Transfus Med 1998; 8: 231–238
- 15 Hosseini-Maaf B, Hellberg A, Rodrigues MJ, Chester MA, Olsson ML: 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: 17–27
- 16 Roubinet F, Despiau S, Calafell F, Jin F, Bertanpetit J, Saitou N, Blancher A: Evolution of the O alleles of the human ABO blood group gene. Transfusion 2004; 44: 707–715
- 17 Olsson ML, Guerreiro JF, Zago M, 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: 779–782
- 18 Yamamoto F, McNeill PD, Yamamoto M, Hakomori S: Genomic organization of human histo-blood group ABO genes. Glycobiology 1995; 5: 51–58
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