The RHD * weak D type 4.0 allele is predominantly but not exclusively cis-associated with the altered RHCE * ce(c.48C, c.105T, c.733G, c.744C, c.1025T) allele in the French population

摘要

In a recent paper published in Transfusion Medicine, Ouchari et al. (2013) reported a molecular study on the structure of the RHCE gene in as with the weak D type 4.0 alkie. This latter allele is characterised by the missense c.602C>G and c.667T>G variants resulting in the p.T201R and p.F223V amino acid substitutions, respectively, as well as the silent c.819G> A variant (Wagner et al, 1999). In their paper, the authors showed in 4 homozygous and 15 heterozygous Tunisian individuals that the aforementioned variant D allele is as-associated with an altered RHCE*ce allele, which involves five single-base substitutions (i.e. C.48C and C.105T in exon 1, C.733G and C.744C in exon 5; and c. 1025T in exon 7) already reported in other haplotypes but not combined together.