Author/Editor     Rupreht, Ruth Rebeka; Pretnar-Hartman, Katrina; Galvani, Vesna; Rožman, Primož; Čurin-Šerbec, Vladka
Title     Weak D and partial D in Slovenian population through serology and genotyping
Type     članek
Source     Pflugers Arch
Vol. and No.     Letnik 440, št. 5 Suppl
Publication year     2000
Volume     str. R195-6
Language     eng
Abstract     Weak D red cell phenotype (formerly D*) exhibits weaker serological reaction with anti-D antibodies. Weak D occurs in 0.2% to 1 % of whites and is caused by qualitatively altered RhD proteins called partial D or normal, only weakly expressed RhD proteins that are called weak D. Partial D genes are hybrid alleles between RHD an RHCE genes. 23 partial RHD alleles are described. Weak D phenotypes with reduced expression are likely lo posses the normal RHD gene, but the latest findings indicate that weak D alleles carry at least one point mutation. The aim of the present work was to answer an important question how to approach partial and weak D identification in diagnostic use and if it is possible to distinguish between partial U and weak D using commercially available anti-D reagents fur routine use. We also wanted to evaluate D-screen kit for partial D identification. We compared phenotypes identified by serological lesting and genotypes identified by RHD Mutiplex PCR and D7 specific ASPA PCR. Our results showed that it is not possible to distinguish between partial and weak D using commercially available anti-D reagents for routine use. D-screen proved to be useful for D6 and D7 identification, whereas fur partial D(DFR) identification we must look for another set of monoclonal antibodies or simply use genotyping methods. In 44 samples with not interpretable serological results out of 80 we found all RHD specific exons present and we classified the samples as weak D. Fourteen types of weak D with at least one point mutation were recently proposed. Designing of allele specific PCRs for identification of proposed types of weak D is in progress.
Descriptors     RH-HR BLOOD-GROUP SYSTEM
GENOTYPE
ALLELES
POLYMERASE CHAIN REACTION
AGGLUTINATION TESTS
BLOOD DONORS
SLOVENIA