Document Detail

RHD(T201R, F223V) cluster analysis in five different ethnic groups and serologic characterization of a new Ethiopian variant DARE, the DIII type 6, and the RHD(F223V).
MedLine Citation:
PMID:  16584437     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: The RHD phylogeny in humans shows four main clusters of which three are predominantly observed in (African) black persons. Each of the African clusters is characterized by specific amino acid substitutions relative to the Eurasian RHD allele. RH phylogeny defines the framework for identification of clinically relevant aberrant alleles. This study focuses on the weak D type 4 cluster (characterized by RHD(T201R, F223V) (602C>G 667T>G)) in five ethnic groups. STUDY DESIGN AND METHODS: A total of 1702 samples were screened for the presence of 602C>G and 667T>G by sequence-specific polymerase chain reaction (PCR-SSP). Eighty samples were assigned to the weak D type 4 cluster and were molecularly characterized by PCR-SSP and RHD sequencing. Antigens of aberrant alleles were characterized with monoclonal anti-D according to the 37-epitope model when possible. RESULTS: Five new aberrant alleles, DIII type 6, DIII type 7, DARE, RHD(T201R, F223V) (without 819G>A), and RHD(F223V), were identified and DIII type 6, DARE, and RHD(F223V) were serologically characterized with monoclonal anti-D. Both the DARE and RHD(F223V) showed epitope loss. It is postulated that the 1136C>T nucleotide substitution (characteristic for the DAU allele cluster) is present on the DVa(KOU) allele. CONCLUSION: Identification of the new variant alleles refines the phylogeny of RHD in humans. The proposed DVa(KOU) allele with 1136C>T (DVa(KOU)T379M) is probably caused by conversion of the DAU0 allele and the DVa(KOU) allele, forming a phylogenetic link between the DV allele and the DAU cluster. By describing the RHD(F223V) (602C>G) and RHD(T201R, F223V) (602C>G and 667T>G) alleles formal proof is given for the origin of the non-Eurasian cluster.
Martine G H M Grootkerk-Tax; Joyce D van Wintershoven; Peter C Ligthart; Dick J van Rhenen; C Ellen van der Schoot; Petra A Maaskant-van Wijk
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Transfusion     Volume:  46     ISSN:  0041-1132     ISO Abbreviation:  Transfusion     Publication Date:  2006 Apr 
Date Detail:
Created Date:  2006-04-04     Completed Date:  2006-06-26     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0417360     Medline TA:  Transfusion     Country:  United States    
Other Details:
Languages:  eng     Pagination:  606-15     Citation Subset:  IM    
Sanquin Research, Amsterdam.
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MeSH Terms
African Continental Ancestry Group / genetics
Amino Acid Substitution
Cluster Analysis
Genetic Variation*
Polymorphism, Single Nucleotide*
Rh-Hr Blood-Group System / genetics*
Reg. No./Substance:
0/Rh-Hr Blood-Group System; 0/Rho(D) antigen

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