ABO genotyping in leukemia patients reveals new ABO variant alleles

Abstract

The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. To date, more than 160 ABO alleles have been identified by molecular investigation. Almost all ABO genotyping studies have been performed in blood donors and families and for investigation of ABO subgroups detected serologically. The aim of the present study was to perform ABO genotyping in patients with leukemia. Blood samples were collected from 108 Brazilian patients with chronic myeloid leukemia (N = 69), chronic lymphoid leukemia (N = 13), acute myeloid leukemia (N = 15), and acute lymphoid leukemia (N = 11). ABO genotyping was carried out using allele specific primer polymerase chain reaction followed by DNA sequencing. ABO*O01 was the most common allele found, followed by ABO*O22 and by ABO*A103. We identified 22 new ABO* variants in the coding region of the ABO gene in 25 individuals with leukemia (23.2%). The majority of ABO variants was detected in O alleles (15/60.0%). In 5 of 51 samples typed as blood group O (9.8%), we found non-deletional ABO*O alleles. Elucidation of the diversity of this gene in leukemia and in other diseases is important for the determination of the effect of changes in an amino ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 7 (1): 87-94 (2008) M.C.Z. Novaretti et al. acid residue on the specificity and activity of ABO glycosyltransferases and their function. In conclusion, this is the first report of a large number of patients with leukemia genotyped for ABO. The findings of this study indicate that there is a high level of recombinant activity in the ABO gene in leukemia patients, revealing new ABO variants.

Funções biológicas dos antígenos eritrocitários

“…58,59 Em pacientes leucêmicos foi reportado grande número de polimorfismos ABO ainda não descritos na literatura, tendo sido postulado que os antígenos ABO tenham algum papel potencial no processo de leucemogênese. 60 …”

Minor ABO-Mismatches are Risk Factors for Acute Graft-versus-Host Disease in Hematopoietic Stem Cell Transplant Patients

“…ABO antigens are carbohydrates expressed on red blood cells and various epithelial and endothelial cells [9]. Their synthesis depends on ABO glycosyltransferases, coded by more than 160 different alleles described until now [10]. Regarding this polymorphism, Eiz-Vesper and colleagues [11] have recently shown in vitro that different synthetic glycosyltransferase peptides can induce peptide-specific T cell responses.…”

Association of group erythrocyte antigens and B-cell non-Hodgkin lymphoma

“…Оскільки гени мРНК АВ0 знайдені в гемопоетичних стовбурових клітинах, теоретично, будь-яка мутація у цій зоні може призвести до появи патологічного клону. У 23,2% хворих на лейкемію виявлено поліморфізм і високий рівень рекомбінантної активності АВ0 гена: ідентифіковано 22 його нові варіанти (Novaretti et al, 2008). Зустрічаються публікації про кореляцію експресії антигенів груп крові системи АВ0 з лімфомою та лейкемією (Akhtar et al, 2010;Zand et al, 2010Zand et al, , 2012Zhang et al, 2014).…”