Table 1 Summary of NGS-predicted RH alleles, known Rh serology, and DNA variants in WHO reference samples
Sample | Rh serology a | ISBT alleles a | NGS-predicted antigens b | NGS-based alleles b | Relevant variation c |
|---|---|---|---|---|---|
RBC1 | D+ | RHD*01; RHD*01 | D+ | RHD*01; RHD*01 | |
C+c+ | RHCE*C; RHCE*c | C+c+ | RHCE*C; RHCE*c | Het. RHCE*CE-D(2)-CE hybrid allele | |
E+e+ | RHCE*cE; RHCE*e | E+e+ | RHCE*03; RHCE*01.01 | Het. missense variant (c.676G>C); Het. missense variant (c.48G>C) | |
RBC4 | D+ | RHD*01; RHD*01 | D+ | RHD*01; RHD*01 | |
C+c− | RHCE*C; RHCE*C | C+c− | RHCE*C; RHCE*c | Hom. RHCE*CE-D(2)-CE allele | |
E−e+ | RHCE*e; RHCE*e | E−e+ | RHCE*e; RHCE*01.01 | Het. missense variant (c.48G>C) | |
RBC5 | D− | RHD*01N; RHD*01N | D− | RHD*01N; RHD*01N | Hom. RHD deletion |
C−c+ | RHCE*c; RHCE*c | C−c+ | RHCE*c; RHCE*c | ||
E−e+ | RHCE*e; RHCE*e | E−e+ | RHCE*e; RHCE*e | ||
RBC12 | D− | RHD*04N.01 (RHDΨ) | D− | RHD*04N.01; RHD*01N | Hemi. variants (37-bp insertion, c.807T>G)d; Hemi. RHD deletion |
C−c+, V+ VS+ | RHCE*c; RHCE*c | C−c+ | RHCE*c; (RHCE*01.20.02) | Het. missense (c.48G>C); Het. missense (c.733C>G) | |
E−e+, V+ VS+ | RHCE*e; RHCE*e | E−e+ | RHCE*e; (RHCE*01.20.02) | Het. missense (c.48G>C); Het. missense (c.733C>G) |