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RHCE genotyping using next generation sequencing: Allele specific reference sequences.
Transfusion
December 2024
School of Biomedical Sciences, Faculty of Health, University of Plymouth, Plymouth, UK.
Background: The Rh blood group system (ISBT004) is encoded by two homologous genes, RHD and RHCE. Polymorphism in these two genes gives rise to 56 antigens, which are highly immunogenic and clinically significant. This study extended previous work on the establishment of RHD allele specific reference sequences using next generation sequencing (NGS) with the Ion Personal Genome Machine (Ion PGM) to sequence the complete RHCE gene.
View Article and Find Full Text PDFFc mutagenesis enhances the functionality of anti-RhD monoclonal antibodies.
Blood Adv
December 2024
Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.
Haemolytic disease of the foetus and newborn (HDFN) due to Rhesus D (RhD) antigen mismatch between the mother and foetus has been a significant cause of neonatal jaundice, recurrent miscarriage and stillbirth throughout history. Anti-RhD prophylaxis using polyclonal immunoglobulin G (RhD-pIgG) derived from the plasma of RhD-negative donors immunised with RhD-positive red blood cells (RBCs), has reduced the incidence of HDFN, but this approach is currently restricted to developed countries. Monoclonal antibodies (mAbs) offer a promising alternative to address this pressing need, but prior attempts to develop effective anti-RhD mAbs have failed, in some cases due to differences in fucosylation patterns between mAbs produced in cell lines and RhD-pIgG.
View Article and Find Full Text PDFReal-world performance of a clinical droplet digital polymerase chain reaction assay for non-invasive foetal blood group and platelet antigen genotyping of alloimmunized pregnant women with antibodies directed against RhD, RhE, Rhc, RhC, K1, HPA-1a or HPA-5b: A 1-year experience.
Vox Sang
December 2024
Clinical Laboratory Advise, Sanquin Diagnostic Services, Sanquin, Amsterdam, The Netherlands.
Background And Objectives: To test the performance of a new droplet digital polymerase chain reaction (ddPCR) non-invasive foetal blood group and platelet antigen genotyping assay in the setting of a Dutch reference laboratory for foetal blood group and platelet antigen genotyping. Our population comprised 229 consecutive alloimmunized pregnant women who presented between April 2022 and March 2023 with 250 requests for non-invasive foetal RHD, RHE, RHc, RHC, K1, HPA-1a or HPA-5b blood group and platelet antigen genotyping.
Materials And Methods: Samples were genotyped for blood group and platelet antigen alleles along with methylated RASSF1a (mRASSF1a) and sex-determining region of Y (SRY) and DYS14 as positive foetal controls.
The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.
J Transl Med
December 2024
Department of Physiology, Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.
Cleidocranial Dysplasia (CCD) is a rare genetic disorder characterized by skeletal abnormalities and dental anomalies, primarily caused by variants in the RUNX2 gene. Understanding the spectrum of RUNX2 variants and their effects on CCD phenotypes is crucial for accurate diagnosis and management strategies. This systematic review aimed to comprehensively analyze the genotypic and phenotypic spectra of RUNX2 variants in CCD patients, assess their distribution across functional regions, and investigate genotype-phenotype correlations.
View Article and Find Full Text PDFA splice site variant defining the novel RHD*01(487-3G) allele in trans to RHD*DAR1.2.
Transfusion
November 2024
Department of Pathology and Laboratory Medicine, Los Angeles General Medical Center (LAGMC), Los Angeles, California, USA.
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