Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Ouchari, M; Polin, H; Romdhane, H; Abdelkefi, S; Houissa, B; Chakroun, T; Gabriel, C; Hmida, S; Jemni Yacoub, S.
RHD*weak partial 4.0 is associated with an altered RHCE*ce(48C, 105T, 733G, 744C, 1025T) allele in the Tunisian population.
Transfus Med. 2013; 23(4): 245-249.
Doi: 10.1111/tme.12037
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- GABRIEL Christian
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- Abstract:
- D is the most immunogenic blood group antigen. About 1% of whites carry an altered RHD allele leading to quantitative or qualitative changes in the antigen D expression. T201R and F223V encoded by 602C>G and 667T>G are specific amino acid substitutions of the weak D type 4 cluster of African origin, comprising the alleles RHD*09.01, RHD*09.02, RHD*09.03, RHD*09.04 and RHD*09.05. The purpose of this study was to estimate the presence of these RHD genotypes in the Tunisian population. Ethylenediaminetetraacetate blood samples from 907 D+ and 93 D- blood donors were tested for markers 602G and 667G by allele-specific primer-polymerase chain reaction (PCR-ASP). Samples with positive reactions were re-evaluated by DNA sequencing for RHD and RHCE exons 1-10 and adjacent intronic sequences. Among 907 D+ samples, 19 individuals were identified to harbour the RHD*weak partial 4.0 allele. RHCE sequencing post-haplotype-specific extraction (HSE) revealed an altered RHCE*ce(48C, 105T, 733G, 744C, 1025T) in those samples. The linkage of the RHCE polymorphisms to one haplotype was proven by DNA sequencing post-HSE. The RHD*weak partial 4.0 allele syn. RHD*09.03 was estimated to occur 1 in 47 among D+ Tunisians. There was no evidence for other RHD alleles included in the weak D type 4 cluster. © 2013 The Authors. Transfusion Medicine © 2013 British Blood Transfusion Society.
- Find related publications in this database (using NLM MeSH Indexing)
- Alleles -
- Exons - genetics
- Female -
- Gene Frequency - genetics
- Humans -
- Male -
- Polymorphism, Genetic -
- Rh-Hr Blood-Group System - genetics
- Rh-Hr Blood-Group System -
- Find related publications in this database (Keywords)
- PCR-ASP
- RHD*weak D partial 4
- 0
- Tunisia