LACK OF RH C E EXPRESSION IN THE RHESUS D-- PHENOTYPE IS THE RESULT OF A GENE DELETION/

Citation
T. Blunt et al., LACK OF RH C E EXPRESSION IN THE RHESUS D-- PHENOTYPE IS THE RESULT OF A GENE DELETION/, Annals of Human Genetics, 58, 1994, pp. 19-24
Citations number
18
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00034800
Volume
58
Year of publication
1994
Part
1
Pages
19 - 24
Database
ISI
SICI code
0003-4800(1994)58:<19:LORCEE>2.0.ZU;2-Y
Abstract
We have investigated the arrangement of genes in the rare Rh (Rhesus) partial null condition D--. Southern blot and PCR studies under condit ions which distinguish the highly homologous RH D and RH C/E genes sho w that in an Icelandic family with the D-- haplotype at least 85 % of the RH C/E gene is deleted. This finding is in contrast to one other p ublished case of this phenotype, where intact RH D and C/E genes were found, and also to the full amorph Rh-null phenotype, where an intact RH C/E gene was found, accompanied by the deletion of the RH D gene ty pical of Rh D-negative individuals.