Table 1 Summary of NGS-predicted RH alleles, known Rh serology, and DNA variants in WHO reference samples

From: Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts

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)

  1. aRh serology and ISBT alleles shown are those previously reported in Boyle et al. (2013) or ISBT v.2.0 110914. ISBT allele names are adapted to avoid assuming phase between C, c and E, e indicative variants
  2. bNGS-based predicted antigen expression and NGS-based alleles are predicted based on detected variants shown in the “Relevant variation” column
  3. cComplementary DNA (cDNA) positions are relative to NM_016124.3 for RHD and NM_020485.4 for RHCE
  4. dIn RBC12, variants under “Relevant variation” co-occurred with 4 other variants that define the RHD*04N.01
  5. ISBT International Society of Blood Transfusions, NGS next-generation sequencing, WHO World Health Organization