RHD*weak partial 4.0 is associated with an altered RHCE*ce(48C, 105T, 733G, 744C, 1025T) allele in the Tunisian population
Article first published online: 7 JUN 2013
© 2013 The Authors. Transfusion Medicine © 2013 British Blood Transfusion Society
Volume 23, Issue 4, pages 245–249, August 2013
How to Cite
Ouchari, M., Polin, H., Romdhane, H., Abdelkefi, S., Houissa, B., Chakroun, T., Gabriel, C., Hmida, S. and Jemni Yacoub, S. (2013), RHD*weak partial 4.0 is associated with an altered RHCE*ce(48C, 105T, 733G, 744C, 1025T) allele in the Tunisian population. Transfusion Medicine, 23: 245–249. doi: 10.1111/tme.12037
- Issue published online: 18 JUL 2013
- Article first published online: 7 JUN 2013
- Manuscript Accepted: 12 MAR 2013
- Manuscript Revised: 2 MAR 2013
- Manuscript Received: 30 NOV 2012
- UR06SP05 Centre Régional de Transfusion Sanguine de Sousse
- RHD*weak D partial 4.0;
Background and Objectives
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.
Materials and Methods
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.