A5016094743- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Blood disorders and treatments
- Hemoglobinopathies and Related Disorders
- Neonatal Health and Biochemistry
- Parvovirus B19 Infection Studies
- Glycosylation and Glycoproteins Research
- Prenatal Screening and Diagnostics
- Platelet Disorders and Treatments
- Immunodeficiency and Autoimmune Disorders
- Diabetes and associated disorders
- Immune Cell Function and Interaction
- Hepatitis B Virus Studies
- Cytomegalovirus and herpesvirus research
- HIV Research and Treatment
- RNA modifications and cancer
- Neuroscience of respiration and sleep
- Microtubule and mitosis dynamics
- Pancreatic function and diabetes
- Genomics and Rare Diseases
- Adolescent and Pediatric Healthcare
- Advanced biosensing and bioanalysis techniques
- Hemoglobin structure and function
- Cystic Fibrosis Research Advances
- Transplantation: Methods and Outcomes
Lund University
2010-2023
Dutch Blood Transfusion Society
2021
Institute for Transfusion Medicine
2004-2018
Swiss Red Cross
2004-2010
University of Pittsburgh
2008-2010
Carlsberg Laboratory
2008-2010
Skåne University Hospital
2010
Institut National de la Transfusion Sanguine
2010
New York Blood Center
2007
Magen David Adom
2003-2004
Under the ISBT, Working Party (WP) for Red Cell Immunogenetics and Blood Group Terminology is charged with ratifying blood group systems, antigens alleles. This report presents outcomes from four WP business meetings, one located in Basel 2019 three held as virtual meetings during COVID-19 pandemic 2020 2021.As previous matters pertaining to antigen nomenclature were discussed. New systems approved named according serologic, genetic, biochemical cell biological evidence presented.Seven new...
The biochemistry and molecular genetics underlying the related carbohydrate blood group antigens P, P(k), LKE in GLOB collection P1 P system are complex not fully understood. Individuals with rare but clinically important erythrocyte phenotypes P(1)(k) P(2)(k) lack capability to synthesize antigen identified as globoside, cellular receptor for Parvo-B19 virus some P-fimbriated Escherichia coli. As ABO system, naturally occurring antibodies, anti-P of IgM IgG class hemolytic cytotoxic...
BACKGROUND: ABO genotyping is complicated by the remarkable diversity at locus. Recombination or gene conversion between common alleles may lead to hybrids resulting in unexpected phenotypes. Furthermore, numerous mutations associated with weak subgroups and nondeletional null should be considered. All known methods, however, risk incorrect phenotype predictions if any such are present. STUDY DESIGN AND METHODS: An extensive set of allele‐specific primers was designed accomplish hybrid‐proof...
The antigens in the P1PK blood group system are carried on glycosphingolipids. currently includes three different antigens, P1, Pk, and NOR. P1 antigen was disovered 1927 by Landsteiner Levine, Pk NOR were described 1951 1982, respectively. As ABO system, naturally occurring antibodies of immunoglobulin (Ig) M or IgG class, against missing carbohydrate structures, can be present sera people lacking corresponding antigen. Anti-P1 is generally a weak cold-reactive antibody not implicated...
BACKGROUND: In the ABO blood group system mutations in A gene may lead to weak subgroups owing a dysfunctional 3‐α‐ N ‐acetylgalactosaminyltransferase. STUDY DESIGN AND METHODS: Blood and DNA were investigated correlate phenotypes with genotype, an overrepresentation of infrequent O 2 allele was observed. Consequently, 57 available alleles examined detail. RESULTS: Two new identified having resulting Gly229Asp or without Arg217Cys. recently described variant (488C>T; Thr163Met) also...
Since the cloning in 1990 of cDNA corresponding to mRNA transcribed at blood-group ABO locus, polymorphisms due ethnic and/or phenotypic variations have been reported. Some subgroups explained molecular level, but unresolved samples are frequently encountered reference laboratory. blood grouping discrepancies were investigated serologically and by genotyping [duplex polymerase-chain-reaction (PCR) – restriction-fragment-length-polymorphism (RFLP) PCR allele-specific-primer (ASP) across...
The 1061delC single-nucleotide polymorphism (SNP) has been reported mostly in the context of common A(2)[A201] allele and typically produces an A(2) phenotype. This study evaluated new A(weak) alleles, each containing 1061delC.Twenty samples were referred to our laboratory for analysis due suspected phenotypes originally detected at referring centers. ABO Exons 1 through 7 flanking intronic regions sequenced. A antigen expression on red blood cells was analyzed by flow cytometry. Plasma...
Sda is a high-frequency carbohydrate histo-blood group antigen, GalNAcβ1-4(NeuAcα2-3)Galβ, implicated in pathogen invasion, cancer, xenotransplantation and transfusion medicine. Complete lack of this glycan epitope results the Sd(a−) phenotype observed 4% individuals who may produce anti-Sda. A candidate gene (B4GALNT2), encoding Sda-synthesizing β-1,4-N-acetylgalactosaminyltransferase (β4GalNAc-T2), was cloned 2003 but genetic basis human deficiency never elucidated. Experimental...
The purpose of this study was to explore the molecular basis p phenotype by analysis recently cloned 4-alpha-galactosyltransferase gene responsible for synthesis Pk (Gb3) antigen.Forty samples from individuals eight different nationalities were investigated serologic methods and DNA sequencing gene.Ten Pk-null alleles, which 6 are novel, encountered. 29 Swedes homozygous M183K or G187D, with former as predominant allele. Three Israelis a single-nucleotide deletion at codon 219 that shifts...
BACKGROUND: The rare p phenotype is found at a higher frequency in Amish people than other populations. Different mutations the 4‐α‐galactosyltransferase gene ( A4GALT ), responsible for synthesis of P k (Gb 3 ) antigen, have been to cause ‐deficient phenotype. aim this study was explore molecular background origin. STUDY DESIGN AND METHODS: Twenty blood samples with phenotype, 19 them from individuals and 1 Pakistani, were investigated. Amplification genomic DNA by polymerase chain reaction...
<b><i>Introduction:</i></b> With over 360 blood group antigens in systems recognized, there are antigens, such as RhD, which demonstrate a quantitative reduction antigen expression due to nucleotide variants the non-coding region of gene that result aberrant splicing or regulatory mechanism. This study aimed evaluate bioinformatically predicted GATA1-binding motifs <i>RHD</i> for samples presenting with weak apparently negative RhD but showing normal...
Summary The aim of this study was to further explore the molecular genetic bases clinically important but rare blood group phenotypes p, P 1 k and 2 by analysis 4‐ α ‐galactosyltransferase ( ) 3‐ β ‐ N ‐acetylgalactosaminyltransferase genes responsible for synthesis related (Gb 3 4 antigens respectively. Lack these glycolipid moieties is associated with severe transfusion reactions recurrent spontaneous abortions also offers immunity against certain infectious agents. Blood samples from 20 p...
summary . Apparent deviation from Mendelian rules of blood group inheritance is rarely observed. Blood O parents with children expressing weak A subgroups have occasionally been described but not explained. detailed serological investigation such a family here. The ABO locus was analysed by PCR‐ASP/restriction fragment length polymorphism genotyping and DNA sequencing. propositus' RBCs were very weakly agglutinated monoclonal anti‐A distinctly polyclonal anti‐A,B, i.e. typical for x Serum 1...
Abstract Background The molecular genetics of the P blood group system and absence P1 antigen in p phenotype are still enigmatic. One theory proposes that same gene encodes for both k glycosyltransferases, but no polymorphisms coding region explain 1 /P 2 phenotypes. We investigated potential regulatory regions up- downstream A4GALT ( ) exons. Results (n = 18) 9) samples from donors mainly Swedish descent were analysed by direct sequencing PCR-amplified 5'- 3'-fragments surrounding region....
Background and Objectives Reagent red blood cells (RBCs) for antibody detection should express certain important antigens as a double dose, that is, the donors must be homozygous corresponding alleles. Traditionally, dose is determined by serological typing known allele frequencies. However, RHD zygosity cannot predicted serologically owing to absence of an antithetical antigen, FY confounded two variant haplotypes, * 0 X . Furthermore, lack reagents hampers our ability type some clinically...
The rare but clinically important null phenotypes of the P1PK and GLOB blood group systems are due to alterations in A4GALT B3GALNT1, respectively. A recently identified single-nucleotide polymorphism Exon 2a predicts common P1 P2 variants have not been tested.The aim this study was analyze 84 p, (k) , samples, with special emphasis on unknown alleles P(1) /P(2) marker. Of these, 27 samples came from individuals previously investigated genetically were therefore subjected sequencing or a...
Background and Objectives ABO remains the clinically most important blood group system, but despite earlier extensive research, significant findings are still being made. The vast majority of catalogued null alleles based on c.261delG polymorphism. Apart from c.802G>A, other mechanisms for O rare. While analysing data set 1000 Genomes (1000G) project, we encountered two previously uncharacterized deletions, which needed further exploration. Materials Methods Erythrogene database,...