Rh phenotypes and genotypes of D-- family members shown inFigure 1,∗
| Member . | ABO phenotype . | Rh phenotype . | Allele number† . | Predicted by Sanger sequencing . | Predicted by Targeted long-read sequencing . | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RHCE allele‡ . | RHCE genotype . | RHCE . | RH genotype . | |||||||||||
| c.48 . | c.150 . | c.178 . | c.201 . | c.203 . | c.307 . | c.676 . | RHCE allele§ . | |||||||
| ISBT reference | — | — | G | C | C | A | A | C | G | RHCE∗ce | ||||
| CHM13v2 | — | — | C | T | A | G | G | T | G | RHCE∗Ce | ||||
| Proband | A | D+C-c-E-e− | #1☆ | RHCE∗Ce | RHCe/RHCe | C | T | A | G | G | T | — | RHCE∗Ce(1-2)-D(3-10) | RHD∗01-RHCE∗Ce(1-2)-D(3-10)/RHD∗01-RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) |
| #2▿ | RHCE∗Ce | C | T | A | G | G | T | G | RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) | |||||
| Father | O | D+C-c+E+e− | #1☆ | RHCE∗CE | RHCE/RHcE | C | T | A | G | G | T | — | RHCE∗Ce(1-2)-D(3-10) | RHD∗01-RHCE∗Ce(1-2)-D(3-10)/RHD∗01-RHCE∗cE |
| #2 | RHCE∗cE | G | C | C | A | A | C | C | RHCE∗cE | |||||
| Mother | A | D+C-c+E+e− | #1▲ | RHCE∗Ce | RHCe/RHcE | G | C | C | A | A | C | C | RHCE∗cE | RHD∗01-RHCE∗cE/RHD∗01-RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) |
| #2▿ | RHCE∗cE | C | T | A | G | G | T | G | RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) | |||||
| Sister | A | D+C-c+E+e− | #1▲ | RHCE∗CE | RHCE/RHcE | G | C | C | A | A | C | C | RHCE∗cE | RHD∗01-RHCE∗cE/RHD∗01-RHCE∗Ce(1-2)-D(3-10) |
| #2☆ | RHCE∗ cE | C | T | A | G | G | T | — | RHCE∗Ce(1-2)-D(3-10) | |||||
| Child1st | AB | D+C+c-E-e+ | #1★ | RHCE∗Ce | RHCe/RHCe | C | T | A | G | G | T | G | RHCE∗Ce | RHD∗01-RHCE∗Ce/RHD∗01-RHCE∗Ce(1-2)-D(3-10) |
| #2☆ | RHCE∗Ce | C | T | A | G | G | T | — | RHCE∗Ce(1-2)-D(3-10) | |||||
| Child2nd | AB | D+C+c-E-e+ | #1★ | RHCE∗Ce | RHCe/RHCe | C | T | A | G | G | T | G | RHCE∗Ce | RHD∗01-RHCE∗Ce/RHD∗01-RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) |
| #2▿ | RHCE∗Ce | C | T | A | G | G | T | G | RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) | |||||
| Husband | AB | D+C+c+E-e+ | #1★ | RHCE∗Ce | RHCe/RHce | C | T | A | G | G | T | G | RHCE∗Ce | RHD∗01-RHCE∗Ce/RHD∗01-RHCE∗ce.01 |
| #2 | RHCE∗ce | C | C | C | A | A | C | G | RHCE∗ce.01 | |||||
| Member . | ABO phenotype . | Rh phenotype . | Allele number† . | Predicted by Sanger sequencing . | Predicted by Targeted long-read sequencing . | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RHCE allele‡ . | RHCE genotype . | RHCE . | RH genotype . | |||||||||||
| c.48 . | c.150 . | c.178 . | c.201 . | c.203 . | c.307 . | c.676 . | RHCE allele§ . | |||||||
| ISBT reference | — | — | G | C | C | A | A | C | G | RHCE∗ce | ||||
| CHM13v2 | — | — | C | T | A | G | G | T | G | RHCE∗Ce | ||||
| Proband | A | D+C-c-E-e− | #1☆ | RHCE∗Ce | RHCe/RHCe | C | T | A | G | G | T | — | RHCE∗Ce(1-2)-D(3-10) | RHD∗01-RHCE∗Ce(1-2)-D(3-10)/RHD∗01-RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) |
| #2▿ | RHCE∗Ce | C | T | A | G | G | T | G | RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) | |||||
| Father | O | D+C-c+E+e− | #1☆ | RHCE∗CE | RHCE/RHcE | C | T | A | G | G | T | — | RHCE∗Ce(1-2)-D(3-10) | RHD∗01-RHCE∗Ce(1-2)-D(3-10)/RHD∗01-RHCE∗cE |
| #2 | RHCE∗cE | G | C | C | A | A | C | C | RHCE∗cE | |||||
| Mother | A | D+C-c+E+e− | #1▲ | RHCE∗Ce | RHCe/RHcE | G | C | C | A | A | C | C | RHCE∗cE | RHD∗01-RHCE∗cE/RHD∗01-RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) |
| #2▿ | RHCE∗cE | C | T | A | G | G | T | G | RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) | |||||
| Sister | A | D+C-c+E+e− | #1▲ | RHCE∗CE | RHCE/RHcE | G | C | C | A | A | C | C | RHCE∗cE | RHD∗01-RHCE∗cE/RHD∗01-RHCE∗Ce(1-2)-D(3-10) |
| #2☆ | RHCE∗ cE | C | T | A | G | G | T | — | RHCE∗Ce(1-2)-D(3-10) | |||||
| Child1st | AB | D+C+c-E-e+ | #1★ | RHCE∗Ce | RHCe/RHCe | C | T | A | G | G | T | G | RHCE∗Ce | RHD∗01-RHCE∗Ce/RHD∗01-RHCE∗Ce(1-2)-D(3-10) |
| #2☆ | RHCE∗Ce | C | T | A | G | G | T | — | RHCE∗Ce(1-2)-D(3-10) | |||||
| Child2nd | AB | D+C+c-E-e+ | #1★ | RHCE∗Ce | RHCe/RHCe | C | T | A | G | G | T | G | RHCE∗Ce | RHD∗01-RHCE∗Ce/RHD∗01-RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) |
| #2▿ | RHCE∗Ce | C | T | A | G | G | T | G | RHCE∗Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10) | |||||
| Husband | AB | D+C+c+E-e+ | #1★ | RHCE∗Ce | RHCe/RHce | C | T | A | G | G | T | G | RHCE∗Ce | RHD∗01-RHCE∗Ce/RHD∗01-RHCE∗ce.01 |
| #2 | RHCE∗ce | C | C | C | A | A | C | G | RHCE∗ce.01 | |||||
Nomenclature based on (ISBT 004) RHCE blood group alleles v6.2-31-MAR-2022 and (ISBT 004) RHD blood group alleles v6.4 31-JUL-2023.
Same shapes represent the same allele predicted by targeted long-read sequencing.
The most likely allele according to the frequency of RHCE alleles in the Chinese population.
Genomic coordinates in the human CHM13v2 reference genome.