PMID- 10607679
OWN - NLM
STAT- MEDLINE
DCOM- 20000131
LR  - 20161124
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 95
IP  - 1
DP  - 2000 Jan 1
TI  - 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.
PG  - 12-8
AB  - 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 identified an RHD pseudogene (RHD psi) in Rh D-negative
      Africans. RHDpsi contains a 37 base pair (bp) insert in exon 4, which may
      introduce a stop codon at position 210. The insert is a sequence duplication
      across the boundary of intron 3 and exon 4. RHDpsi contains another stop codon in
      exon 6. The frequency of RHDpsi in black South Africans is approximately 0.0714. 
      Of 82 D-negative black Africans, 66% had RHDpsi, 15% had the RHD-CE-D hybrid gene
      associated with the VS+ V- phenotype, and only 18% completely lacked RHD. RHDpsi 
      is present in about 24% of D-negative African Americans and 17% of D-negative
      South Africans of mixed race. No RHD transcript could be detected in D-negative
      individuals with RHDpsi, probably as a result of nonsense-mediated mRNA decay.
      Existing PCR-based methods for predicting D phenotype from DNA are not suitable
      for testing Africans or any population containing a substantial proportion of
      people with African ethnicity. Consequently, we have developed a new test that
      detects the 37 bp insert in exon 4 of RHDpsi. (Blood. 2000; 95:12-18)
FAU - Singleton, B K
AU  - Singleton BK
AD  - Bristol Institute for Transfusion Sciences, Bristol, England.
FAU - Green, C A
AU  - Green CA
FAU - Avent, N D
AU  - Avent ND
FAU - Martin, P G
AU  - Martin PG
FAU - Smart, E
AU  - Smart E
FAU - Daka, A
AU  - Daka A
FAU - Narter-Olaga, E G
AU  - Narter-Olaga EG
FAU - Hawthorne, L M
AU  - Hawthorne LM
FAU - Daniels, G
AU  - Daniels G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
RN  - 0 (Glycoproteins)
RN  - 0 (HTT protein, human)
RN  - 0 (Huntingtin Protein)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RHCE protein, human)
RN  - 0 (Recombinant Fusion Proteins)
RN  - 0 (Rh-Hr Blood-Group System)
RN  - 0 (RhD fusion protein, human)
RN  - 0 (Rho(D) antigen)
SB  - AIM
SB  - IM
MH  - African Continental Ancestry Group/*genetics
MH  - Amino Acid Sequence
MH  - Anemia, Hemolytic, Congenital/genetics
MH  - Base Sequence
MH  - Blood Donors
MH  - Ethnic Groups/genetics
MH  - Exons
MH  - Female
MH  - Ghana
MH  - Glycoproteins/chemistry/*genetics
MH  - Humans
MH  - Huntingtin Protein
MH  - Infant, Newborn
MH  - Introns
MH  - Louisiana
MH  - Molecular Sequence Data
MH  - Mutation, Missense
MH  - Nerve Tissue Proteins/chemistry/*genetics
MH  - Nuclear Proteins/chemistry/*genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - *Pseudogenes/genetics
MH  - *Recombinant Fusion Proteins
MH  - Repetitive Sequences, Nucleic Acid
MH  - *Rh-Hr Blood-Group System
MH  - Risk Factors
MH  - Sequence Alignment
MH  - Sequence Deletion
MH  - Sequence Homology, Amino Acid
MH  - Sequence Homology, Nucleic Acid
MH  - South Africa
MH  - Transcription, Genetic
MH  - Zimbabwe
EDAT- 1999/12/23 00:00
MHDA- 1999/12/23 00:01
CRDT- 1999/12/23 00:00
PHST- 1999/12/23 00:00 [pubmed]
PHST- 1999/12/23 00:01 [medline]
PHST- 1999/12/23 00:00 [entrez]
PST - ppublish
SO  - Blood. 2000 Jan 1;95(1):12-8.