Premium
Rh null phenotypes are not due to a gross deletion and can occure on different Rh genetic backgrounds
Author(s) -
CARRITT B.,
BLUNT T.,
AVENT N.,
DANIELS G.,
STEERS F.
Publication year - 1993
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1993.tb00900.x
Subject(s) - rh blood group system , biology , microbiology and biotechnology , phenotype , genetics , restriction fragment length polymorphism , linkage disequilibrium , serology , polymorphism (computer science) , gene , genotype , antibody , haplotype
Summary Alu element‐primed PCR was performed on genomic clones containing human RH blood group genes. When used as a probe, the Alu PCR product detected a restriction fragment‐length polymorphism which is in complete linkage disequilibrium with the Rh C/c serological polymorphism, irrespective of the Rh D or E serological type it is coupled with. This provides the opportunity to type individuals for their RH C gene directly at the DNA level. RFLP analysis of two individuals with the amorph Rh null phenotype revealed that in one case this phenotype occurred on an RH C background, whereas in the other it was on an RH c background. Taken together these results indicate that the Rh C/c polymorphism has arisen only once, but that the amorph Rh null phenotype, although exceedingly rare, is the result of at least two independent mutations.