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Studies on Blood from the Original Rh null Proposita and Relatives
Author(s) -
Boettcher B.,
Watts Susan
Publication year - 1978
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1111/j.1423-0410.1978.tb02887.x
Subject(s) - heterozygote advantage , antigen , rh blood group system , genetics , allele , microbiology and biotechnology , biology , chemistry , gene , antibody
. A relative of the original Rh proposita, of group R 1 R 2 , shows weak expression of his Rh antigens, and is thought to be an Rh null heterozygote. His wife and 3 of their 4 children show normal Rh antigen expression, but one daughter showed weak Rh antigen expression, as determined by quantitative haemagglutination. The observations support the proposition that the father is heterozygous for an unlinked modifier of Rh antigen expression. Stomatocytosis, observed in the Rh null proposita and other Rh null individuals, was also observed, but to a lesser degree, in the blood of an other individual thought to be an Rh null heterozygote. This observation also supports the earlier conclusion that the Rh null phenotype of the proposita is due to homozygosity for inactive alleles at a locus which controls the biosynthesis of precursor for Rh and LW antigens. Osmotic fragility tests showed that the Rh null cells were more fragile than cells with normal Rh antigen expression, and cells from Rh null heterozygotes had intermediate fragility. This is consistent with the proposition that Rh antigens are normal structural components of the red cell membrane, and the Rh null heterozygotes show a deficiency of the Rh antigenic structures.