Microsatellite Variation within the Human RHCE Gene

Background and Objectives: 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. Materials and Methods: DNA from 212 unrelated donors of known Rh serological phenotype was...

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Bibliographic Details
Published in:Vox sanguinis 1999-01, Vol.77 (3), p.159-163
Main Authors: Kemp, Tim J., Poulter, Mark, Carritt, Ben
Format: Article
Language:English
Subjects:
Africa - ethnology
Alleles
Biological and medical sciences
England - epidemiology
Europe - ethnology
Family Health
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Glycoproteins - blood
Glycoproteins - genetics
Haplotypes
Humans
Immunohematology
Introns
Japan - ethnology
Microsatellite Repeats - immunology
Oncogene Proteins, Fusion - blood
Polymorphism, Genetic
Recombinant Fusion Proteins
Red blood cell immunology
Rh-Hr Blood-Group System
Sequence Analysis, DNA
Sequence Homology, Nucleic Acid
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Summary:Background and Objectives: 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. Materials and 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. Conclusion: The predominantly Black African allele cDe displayed a unique set of microsatellite alleles, providing a method of identifying individuals carrying this haplotype.
ISSN:0042-9007
1423-0410
DOI:10.1046/j.1423-0410.1999.7730159.x