A Possible D(C^W) (e) Gene Complex of the Rh System

Abstract

The discovery of a family with three members showing weak Cw antigen is described. In the proposita and her mother the 'depression' of Cw was very marked, while

Molecular background of D(C)(e) haplotypes within the white population

“…These results, the negative testing with anti‐RH32, and the positive results obtained with anti‐RH33 prepared by absorption‐elution from Hor serum suggested that these donors express both the RH33 and RH50 low‐frequency antigens, although the presence of non‐Rh low‐frequency antigens could not be formally excluded. Variant phenotypes with poor expression of C and e, in association with RH33 and RH50 expression (as in Donors 1‐5), have been described at the serologic level but not at the molecular level 21,24 . Therefore, our results provide the molecular basis for these phenotypes.…”

“…Variant phenotypes with poor expression of C and e, in association with RH33 and RH50 expression (as in Donors 1-5), have been described at the serologic level but not at the molecular level. 21,24 Therefore, our results provide the molecular basis for these phenotypes. However, the expression of both RH33 and RH50 was previously correlated with the R 0 Har partial D phenotype, which is encoded by a hybrid RHce-D(5)-ce haplotype lacking RHD, in which exon 5 of RHCE (RHce allele) is replaced by exon 5 of RHD.…”

“…Such rearrangement is responsible for the so-called R N haplotype ([C]D[e]) characterized by the lack of expression of high-frequency Sec (RH46) and the appearance of low-frequency Rh32 (RH32). 11 In the white population, the expression of lowfrequency C w (RH8) and C x (RH9) is also associated with a decreased expression of C and e. 17,20,21 Single-point mutations within exon 1 of RHCE are responsible for these haplotypes. 22 Some serologic studies have demonstrated an association between other low-frequency antigens (Rh33 [RH33 {Har}], Rh35 [RH35], JAL [RH48], FPTT [RH50]) and the depressed expression of C and e. [23][24][25][26][27][28] However, no attempts have been made to correlate the serologic data with any molecular alteration.…”

“…Such rearrangement is responsible for the so‐called R N haplotype ([C]D[e]) characterized by the lack of expression of high‐frequency Sec (RH46) and the appearance of low‐frequency Rh32 (RH32) 11 . In the white population, the expression of low‐frequency C w (RH8) and C x (RH9) is also associated with a decreased expression of C and e 17,20,21 . Single‐point mutations within exon 1 of RHCE are responsible for these haplotypes 22 .…”