The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype.

@article{Singleton2000ThePO,
  title={The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype.},
  author={Belinda K. Singleton and Carole A. Green and Neil D. Avent and P. G. Martin and Elizabeth Smart and Abigail Daka and Edwin G. Narter-Olaga and Linda M. Hawthorne and Geoff L Daniels},
  journal={Blood},
  year={2000},
  volume={95 1},
  pages={
          12-8
        }
}
Antigens of the Rh blood group system are encoded by 2 homologous genes, RHD and RHCE, that produce 2 red cell membrane proteins. The D-negative phenotype is considered to result, almost invariably, from homozygosity for a complete deletion of RHD. The basis of all PCR tests for predicting fetal D phenotype from DNA obtained from amniocytes or maternal plasma is detection of the presence of RHD. These tests are used in order to ascertain the risk of hemolytic disease of the newborn. We have… 

Figures and Tables from this paper

Presence of the RHD pseudogene and the hybrid RHD-CE-D(s) gene in Brazilians with the D-negative phenotype.

Data confirm that the inclusion of two different multiplex PCR for RHD is essential to test the D-negative Brazilian population in order to avoid false-positive typing of polytransfused patients and fetuses.

RHD gene deletion occurred in the Rhesus box.

The molecular structure of the RH gene locus explains the mechanisms for generating RHD/RHCE hybrid alleles and the RHD deletion.

RHD-NEGATIVE ALLELE FOUND IN JAPANESE

The presence of DKK in an RhD-negative individual indicates that DKK is an Rh D-negative allele and that RHD exons 1-3 include a nucleotide sequence which is needed for expression of RhD antigenicity.

The evolution and formation of RH genes.

Investigation of pseudogenes RHDΨ and RHD-CE-D hybrid gene in D-negative blood donors by the real time PCR method.

Detection of fetal RHD pseudogene (RHDΨ) and hybrid RHD-CE-Ds from RHD-negative pregnant women with a free DNA fetal kit.

It is concluded that it is necessary to analyze at least two exon regions in the RHD gene to provide a highly sensitive prenatal diagnosis of Hemolytic disease of the newborn.

Molecular genetics of RH and its clinical application.

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Genetic polymorphism of RhD-negative associated haplotypes in the Chinese

Evaluating the status of seven RHD-specific exons and RH intron 4 in 119 Chinese blood donors using the sequence-specific primers polymerase chain reaction (SSP-PCR) suggested the existence of a novel class of RhD-negative associated haplotypes in the Chinese, tentatively denoted D(nf)Ce.

Novel RHD variant causing RhD negative phenotype identified in a pregnant woman

A novel presumed RHD null allele found in a pregnant woman was identified early in pregnancy when performing blood typing, antibody screening, and fetal RHD screening as part of the national program for maternal care centers in Sweden.

RHD positive haplotypes in D negative Europeans

The results of this study allowed to devise an improved RHD genotyping strategy, the false-positive rate of which was lower than 1:10,000 and the number of characterized RHD positive antigen D negative and Del alleles was more than doubled and their population frequencies in Europe were defined.
...

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