Wafa Ali Abusibaa1,2, Mahmoud A Srour1,3, Ali-Reza Moslemi4, Lola Svensson2, Carlos Jesus5, Fernando Mendes5,6,7,8, Camilla Hesse2. 1. Department of Medical Laboratory Sciences, Faculty of Health Professions, Al-Quds University, East Jerusalem, Palestine. 2. Department for Clinical Chemistry and Transfusion Medicine, Institute for Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 3. Department of Biology and Biochemistry, Birzeit University, Birzeit, Palestine. 4. Department for Pathology, Institute for Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 5. Biomedical Sciences Department of ESTeSC-Coimbra Health School, Polytechnic Institute of Coimbra, Coimbra, Portugal. 6. Biophysics and Biomathematics Institute, IBILI-Faculty of Medicine, University of Coimbra, Coimbra, Portugal. 7. CIMAGO, FMUC-Faculty of Medicine, University of Coimbra, Coimbra, Portugal. 8. CNC.IBILI, Universidade de Coimbra, Coimbra, Portugal.
Abstract
BACKGROUND: The Forssman antigen (FORS1 Ag) is expressed on human red blood cells (RBCs). We investigated its presence on RBCs from Palestinian subjects and Swedish subjects by serological testing and by sequencing part of exon 7 of the GBGT1 gene, which encodes Forssman synthase. MATERIALS AND METHODS: Blood samples from Palestinian subjects (n = 211 adults and n = 73 newborns) and from Swedish subjects (n = 47 adults) were analyzed in the study. RBCs from the Palestinian samples were typed for the FORS1 Ag using a monoclonal anti-Forssman antibody. The GBGT1 gene was genotyped by DNA sequencing (all adult samples) or by using amplification refractory mutation system PCR (newborn samples). RESULTS: All of the studied samples were negative for the FORS1 Ag by serologic typing. DNA sequencing of the 3' end of exon 7 of the GBGT1 gene, which includes Arg296, showed that all samples had the wild-type Arg296 sequence, which is associated with an inactive form of Forssman synthase. We detected four single nucleotide polymorphisms in the adult samples; two were silent (p.Tyr232=, p. Gly290=), and two were missense (p. Arg243Cys, p. Arg243His). The allele frequencies ranged from 0.2 to 3.6%. The p. Arg243Cys SNP was a novel SNP that was detected in one Palestinian sample. CONCLUSION: Our results confirmed the allelic diversity of GBGT1 and identified a novel nucleotide polymorphism in this gene, p. Arg243Cys. Our results also confirmed that the FORS blood group system is a low-frequency system.
BACKGROUND: The Forssman antigen (FORS1 Ag) is expressed on human red blood cells (RBCs). We investigated its presence on RBCs from Palestinian subjects and Swedish subjects by serological testing and by sequencing part of exon 7 of the GBGT1 gene, which encodes Forssman synthase. MATERIALS AND METHODS: Blood samples from Palestinian subjects (n = 211 adults and n = 73 newborns) and from Swedish subjects (n = 47 adults) were analyzed in the study. RBCs from the Palestinian samples were typed for the FORS1 Ag using a monoclonal anti-Forssman antibody. The GBGT1 gene was genotyped by DNA sequencing (all adult samples) or by using amplification refractory mutation system PCR (newborn samples). RESULTS: All of the studied samples were negative for the FORS1 Ag by serologic typing. DNA sequencing of the 3' end of exon 7 of the GBGT1 gene, which includes Arg296, showed that all samples had the wild-type Arg296 sequence, which is associated with an inactive form of Forssman synthase. We detected four single nucleotide polymorphisms in the adult samples; two were silent (p.Tyr232=, p. Gly290=), and two were missense (p. Arg243Cys, p. Arg243His). The allele frequencies ranged from 0.2 to 3.6%. The p. Arg243Cys SNP was a novel SNP that was detected in one Palestinian sample. CONCLUSION: Our results confirmed the allelic diversity of GBGT1 and identified a novel nucleotide polymorphism in this gene, p. Arg243Cys. Our results also confirmed that the FORS blood group system is a low-frequency system.
Authors: R Scott Houliston; Stéphane Bernatchez; Marie-France Karwaski; Robert E Mandrell; Harold C Jarrell; Warren W Wakarchuk; Michel Gilbert Journal: Glycobiology Date: 2008-10-25 Impact factor: 4.313
Authors: Lola Svensson; Annika K Hult; Robert Stamps; Jonas Ångström; Susann Teneberg; Jill R Storry; René Jørgensen; Lennart Rydberg; Stephen M Henry; Martin L Olsson Journal: Blood Date: 2012-12-18 Impact factor: 22.113