TY - JOUR
T1 - RHC and RHc genotyping in different ethnic groups
AU - Tax, Martine G. H. M.
AU - van der Schoot, C. Ellen
AU - van Doorn, René
AU - Douglas-Berger, Lotte
AU - van Rhenen, Dick J.
AU - Maaskant-vanWijk, Petra A.
PY - 2002
Y1 - 2002
N2 - 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. STUDY DESIGN AND 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
AB - 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. STUDY DESIGN AND 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
U2 - https://doi.org/10.1046/j.1537-2995.2002.00096.x
DO - https://doi.org/10.1046/j.1537-2995.2002.00096.x
M3 - Article
C2 - 12084173
SN - 0041-1132
VL - 42
SP - 634
EP - 644
JO - Transfusion
JF - Transfusion
IS - 5
ER -