Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Polin, H; Pelc-Klopotowska, M; Danzer, M; Suessner, S; Gabriel, C; Wilflingseder, J; Żmudzin, A; Orzińska, A; Guz, K; Michalewska, B; Brojer, E.
Compound heterozygosity of two novel RHAG alleles leads to a considerable disruption of the Rh complex.
Transfusion. 2016; 56(4):950-955
Doi: 10.1111/trf.13476
(- Case Report)
Web of Science
PubMed
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FullText_MUG
- Co-Autor*innen der Med Uni Graz
- GABRIEL Christian
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- Abstract:
- The Rhesus (Rh) complex consists of a core comprising the Rh proteins (RhD/RhCE) and the Rh-associated glycoprotein (RhAG) with accessory chains (GPB, LW, CD47). Molecular defects of the RHAG gene may cause a regulator Rhnull phenotype without Rh antigen expression or a Rhmod phenotype with decreased Rh antigen expression. Blood samples of a donor with strongly diminished Rh antigens and five family members were analyzed by serological phenotyping, flow cytometry, molecular testing, and gene expression analysis of Rh complex candidate genes. RHAG sequencing identified a missense mutation, c.241G>C (p.Gly81Arg) and a splice site mutation, c.640 + 3del14, among the cohort. Compound heterozygosity of these novel alleles identified in the propositus and two siblings gave rise to a strongly diminished expression of RhAG, Rh, and CD47 antigens on the RBC surface. The Rhmod phenotype was caused by a novel RHAG splice site mutation in association with a non-functional allele. The primary depression of RhAG is most likely due to posttranslational events that affect the interaction and processing of the RhAG glycoprotein and gave rise to a secondary depression of RhD, RhCE, and CD47, the major members of the Rh complex. © 2016 AABB.
- Find related publications in this database (using NLM MeSH Indexing)
- Alleles -
- Amino Acid Sequence -
- Base Sequence -
- Blood Proteins - genetics Blood Proteins - metabolism
- Erythrocyte Membrane - metabolism
- Heterozygote -
- Humans -
- Membrane Glycoproteins - genetics Membrane Glycoproteins - metabolism
- Molecular Sequence Data -
- Rh-Hr Blood-Group System - genetics Rh-Hr Blood-Group System - metabolism
- Siblings -