RHC and RHc genotyping in different ethnic groups.
BACKGROUND
RH genotyping assays are mainly based on research in whites. These assays may not be reliable in a multiracial society because of the genetic variation in RH among ethnic groups.


METHODS
Five groups from different ethnic backgrounds were serologically typed for C and c and were genotyped on nucleotide C48 and intron 2 for RHC and RHc on nucleotides C178 and C307.


RESULTS
RHc genotyping with both methods proved to be reliable. RHC genotyping on C48 is not reliable because of a 48G>C mutation in the RHce allele (false-positive prediction of C). This mutation was found in every ethnic group and does not affect c or e expression. RHC genotyping on intron 2 is unreliable because of r's (Cdes) alleles (a false-negative prediction of C). This allele was found in whites and blacks from Curaçao and South Africa. Reactions of r's cells with anti-C are weaker, but no negative reactions with various MoAbs were found. A new method (RHC/c/hex3-intron 4/exon 7 multiplex PCRs) was developed based on intron 2 and r's hybrid exon 3 characteristics (RHC) and C307 (RHc).


CONCLUSIONS
Reliable RHC and RHc genotyping is possible in different ethnic groups with the RHC/c/hex3-intron 4/exon 7 multiplex PCR approach.
Tax
Martine G H M
MG
Department of Experimental Immunohematology, CLB and Laboratory for Experimental and Clinical Immunology, Academic Medical Center, University of Amsterdam, The Netherlands.
van der Schoot
C Ellen
CE
van Doorn
René
R
Douglas-Berger
Lotte
L
van Rhenen
Dick J
DJ
Maaskant-vanWijk
Petra A
PA
D000483:Alleles; D001208:Asia / Q000208:ethnology; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D001788:Blood Grouping and Crossmatching; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D005002:Ethiopia; D005006:Ethnicity / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D009426:Netherlands / Q000208:ethnology; D009427:Netherlands Antilles; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D013019:South Africa / Q000208:ethnology; D044465:White People / Q000235:genetics
D006023:Glycoproteins; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; C048423:endodeoxyribonuclease NlaIV; D015252:Deoxyribonucleases, Type II Site-Specific