Evolution of the human RH (rhesus) blood group genes: a 50 year old prediction (partially) fulfilled [published erratum appears in Hum Mol Genet 1997 Aug;6(8):1390]

Almost exactly 50 years ago, R. A. Fisher and R. Race proposed a model forthe evolution of the RH (rhesus) genes in which the less common haplotypeswere derived from the commoner ones by recombination, and in which the geneorder was D-C-E. No direct-evidence bearing on this model was availablethen, and has not been until now. Here we present evidence fornon-reciprocal intergenic exchange (gene conversion) occurring once inhuman history to generate the common RHCE allele, Ce. We have also used newpolymorphisms to construct haplotypes which suggest that intragenicrecombination played a major role in the generation of the less commonhaplotypes, but only if RHD lies 3' of RHCE, i.e. the order is C-E-D. Weprovide both genetic and physical evidence supporting this arrangement.