Microsatellite variation within the human RHCE gene.
OBJECTIVE
This study provides a unique method for identifying individuals carrying the Rh haplotype cDe, and supports a model for the evolution of Rh haplotypes in which cDe is the progenitor.


METHODS
DNA from 212 unrelated donors of known Rh serological phenotype was PCR amplified. The resulting products were analysed by denaturing polyacrylamide gel electrophoresis, denaturing gradient gel electrophoresis and DNA sequencing.


RESULTS
Two adjacent microsatellite repeat elements of the form (AC)n (GCAC)n were found within the human Rh blood group genes. These display copy number variation which was non-randomly distributed with respect to Rh serological phenotype, and was restricted to alleles of RHCE expressing the c antigen.


CONCLUSIONS
The predominantly Black African allele cDe displayed a unique set of microsatellite alleles, providing a method of identifying individuals carrying this haplotype.
Kemp
T J
TJ
MRC Human Biochemical Genetics Unit, University College London, London, UK. tkemp@hgmp.mrc.ac.uk
Poulter
M
M
Carritt
B
B
D000349:Africa / Q000208:ethnology; D000483:Alleles; D004739:England / Q000453:epidemiology; D005060:Europe / Q000208:ethnology; D005192:Family Health; D006023:Glycoproteins / Q000097:blood* / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007438:Introns; D007564:Japan / Q000208:ethnology; D018895:Microsatellite Repeats / Q000276:immunology*; D015514:Oncogene Proteins, Fusion / Q000097:blood; D011110:Polymorphism, Genetic; D011993:Recombinant Fusion Proteins; D012204:Rh-Hr Blood-Group System; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid
D006023:Glycoproteins; D015514:Oncogene Proteins, Fusion; C066468:RHCE protein, human; D011993:Recombinant Fusion Proteins; D012204:Rh-Hr Blood-Group System; C117760:RhD fusion protein, human; C026410:Rho(D) antigen