RHD Typing Using the Exon 10/Intron 4 Multiplex Assay (n = 357)
. | . | Exon 10 . | Intron 4 . | ||
---|---|---|---|---|---|
. | . | + . | − . | + . | − . |
D+ Phenotypes | DCCee (n = 39) | 39 | 0 | 39 | 0 |
DccEE (n = 27) | 27 | 0 | 27 | 0 | |
Dccee (n = 6) | 6 | 0 | 6 | 0 | |
DCCEE (n = 1) | 1 | 0 | 1 | 0 | |
DCcEe (n = 5) | 5 | 0 | 5 | 0 | |
DCcee (n = 26) | 26 | 0 | 26 | 0 | |
DccEe (n = 17) | 17 | 0 | 17 | 0 | |
D− Phenotypes | dccee (n = 55) | 0 | 55 | 0 | 55 |
dCcee (n = 33) | 7 | 26 | 3 | 30 | |
dccEe (n = 43) | 2 | 41 | 2 | 41 | |
dCCee (n = 4) | 1 | 3 | 1 | 3 | |
dccEE (n = 3) | 0 | 3 | 0 | 3 | |
dCcEe (n = 1) | 0 | 1 | 1 | 0 | |
dccEe G+ (n = 1) | 1 | 0 | 0 | 1 | |
Rhnull (n = 3) | 2 | 1 | 2 | 1 | |
Du/D-Variant | DuCcee (n = 35) | 35 | 0 | 31 | 4 |
phenotypes | DuccEe (n = 9) | 9 | 0 | 9 | 0 |
DIICcee (n = 1) | 1 | 0 | 1 | 0 | |
DIIICcee (n = 5) | 5 | 0 | 5 | 0 | |
DIIIccee (n = 2) | 2 | 0 | 2 | 0 | |
DIVaCcee (n = 1) | 1 | 0 | 1 | 0 | |
DIVbCcee (n = 3) | 3 | 0 | 3 | 0 | |
DVaCcee (n = 3) | 3 | 0 | 3 | 0 | |
DVbCcee (n = 1) | 1 | 0 | 1 | 0 | |
DVICcee (n = 9) | 9 | 0 | 0 | 9 | |
DVIccEe (n = 5) | 5 | 0 | 0 | 5 | |
DVIIccee (n = 7) | 7 | 0 | 7 | 0 | |
DBT (n = 1) | 1 | 0 | 1 | 0 | |
DFR (n = 2) | 2 | 0 | 1 | 1 | |
DHMi (n = 4) | 4 | 0 | 4 | 0 | |
DHMii (n = 2) | 2 | 0 | 2 | 0 | |
DHR* (n = 1) | 1 | 0 | 1 | 0 | |
DNU† (n = 1) | 1 | 0 | 1 | 0 | |
DHAR (n = 1) | 0 | 1 | 0 | 1 |
. | . | Exon 10 . | Intron 4 . | ||
---|---|---|---|---|---|
. | . | + . | − . | + . | − . |
D+ Phenotypes | DCCee (n = 39) | 39 | 0 | 39 | 0 |
DccEE (n = 27) | 27 | 0 | 27 | 0 | |
Dccee (n = 6) | 6 | 0 | 6 | 0 | |
DCCEE (n = 1) | 1 | 0 | 1 | 0 | |
DCcEe (n = 5) | 5 | 0 | 5 | 0 | |
DCcee (n = 26) | 26 | 0 | 26 | 0 | |
DccEe (n = 17) | 17 | 0 | 17 | 0 | |
D− Phenotypes | dccee (n = 55) | 0 | 55 | 0 | 55 |
dCcee (n = 33) | 7 | 26 | 3 | 30 | |
dccEe (n = 43) | 2 | 41 | 2 | 41 | |
dCCee (n = 4) | 1 | 3 | 1 | 3 | |
dccEE (n = 3) | 0 | 3 | 0 | 3 | |
dCcEe (n = 1) | 0 | 1 | 1 | 0 | |
dccEe G+ (n = 1) | 1 | 0 | 0 | 1 | |
Rhnull (n = 3) | 2 | 1 | 2 | 1 | |
Du/D-Variant | DuCcee (n = 35) | 35 | 0 | 31 | 4 |
phenotypes | DuccEe (n = 9) | 9 | 0 | 9 | 0 |
DIICcee (n = 1) | 1 | 0 | 1 | 0 | |
DIIICcee (n = 5) | 5 | 0 | 5 | 0 | |
DIIIccee (n = 2) | 2 | 0 | 2 | 0 | |
DIVaCcee (n = 1) | 1 | 0 | 1 | 0 | |
DIVbCcee (n = 3) | 3 | 0 | 3 | 0 | |
DVaCcee (n = 3) | 3 | 0 | 3 | 0 | |
DVbCcee (n = 1) | 1 | 0 | 1 | 0 | |
DVICcee (n = 9) | 9 | 0 | 0 | 9 | |
DVIccEe (n = 5) | 5 | 0 | 0 | 5 | |
DVIIccee (n = 7) | 7 | 0 | 7 | 0 | |
DBT (n = 1) | 1 | 0 | 1 | 0 | |
DFR (n = 2) | 2 | 0 | 1 | 1 | |
DHMi (n = 4) | 4 | 0 | 4 | 0 | |
DHMii (n = 2) | 2 | 0 | 2 | 0 | |
DHR* (n = 1) | 1 | 0 | 1 | 0 | |
DNU† (n = 1) | 1 | 0 | 1 | 0 | |
DHAR (n = 1) | 0 | 1 | 0 | 1 |
DHR: D variant due to point mutation in exon 5 of the RHD gene (J.W. Jones et al, submitted).
DNU: D variant due to point mutation in exon 7 of the RHD gene.27
Multiplex analysis of genomic DNA derived from 357 different individuals expressing different Rh phenotypes. This table illustrates the results of screening genomic DNAs with the multiplex assay with 357 genomic DNAs of which the Rh phenotypes of the erythrocytes had been previously established. This table also illustrates the phenotypes and numbers of samples that are positive or negative with the two RHD-specific aspects of the assay. Discordances in the assay from the serotype are highlighted in bold (further defined in Table 2).