RHD-RHCe(2-9)-RHD

Structure

RHD-RHCe(2-9)-RHD

Key changes from standard allele

Hybrid RHCE(3-9)

ISBT allele designation

RHD*01N.03

Nucleotide changes relative to "standard RHD"

c.[361 T>A;380 T>C;383 A>G;455 A>C;505 A>C;509 T>G;514 A>T;544 T>A;577 G>A;594 A>T;602 C>G;667 T>G;697 G>C;712 G>A;733 G>C;744 C>T;787 G>A;800 A>T;916 G>A;932 A>G;941 G>T;968 C>A;974 G>T;979 A>G;985 GG>CA;989 A>C;992 A>T;1025 T>C;1048 G>C;1053 C>T;1057 GGA>TGG;1060 GC>AA;1170 T>C;1193 A>T]

Amino acid changes relative to standard protein

L121M, V127A, D128G, N152T, M169L, M170R, I172F, S182T, E193K, K198N, T201R, F223V, E233Q, V238M, V245L, G263R, K267M, V306I, Y311C, G314V, P323H, S325I, I327V, G329H, Y330S, N331I, I342T, D350H, G353W, A354N, E398V

ISBT group

RHD negative

Phenotype characterization and grouping

D negative

Phenotypes observed

CcDe (major)
cDe (to confirm)
CDe (to confirm)
CcDEe (to confirm)
cDEe (to confirm)

Haplotype (typical)

CDe

Allele cluster

Eurasian D cluster

Descriptions

First full publication: 1996 Huang CH Blood. 1996 Sep 15;88(6):2326-33.

Other relevant descriptions:
RHD-CE(2-9)-D1 Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.

Serology

No data

Observations

China (general): Shao CP et. al. Vox Sang. 2002 Aug;83(2):156-61. Frequency 1:481
China (general): Xu Q et. al. Vox Sang. 2005 Jan;88(1):35-40.
Korea (south, general): 4.5% of D negative alleles Kim JY et. al. Transfusion. 2005 Mar;45(3):345-52.
Northern Germany: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38. Frequency 1:4.817
Poland (general): Orzinska A et. al. Transfusion. 2013 Nov;53(11 Suppl 2):2945-53. doi: 10.1111
South-Western Germany: Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16. Frequency 1:4.132
Xian: 163 of 2493 samples D-negative in saline; phenotypes Ccee>ccee>CCee Ye SH et. al. Blood Transfus. 2014 Jul;12(3):396-404. doi: 10.2450/2013.0121-13. Epub 2013 Dec
USA (general): Haplotype frequency among CCddee individuals 0.36 Huang CH Blood. 1996 Sep 15;88(6):2326-33.

Related Alleles

RHCE(1-9)-RHD [RHCE(1-9)-RHD]
RHD-RHCE(2-10) [RHD-RHCE(2-10)]
RHD(L110P)-CE(3-9)-D [RHD(L110P)-CE(3-9)-D]
RHD(S68T)-RHCe(3-9)-RHD [RHD(S68T)-RHCE(3-9)-RHD]
RHD-RHCe(2-9)-RHD1 [RHD-RHCE(3-9)-RHD]
RHD-RHCe(2-9)-RHD2 [RHD-RHCE(3-9)-RHD]

Additional comments

In the original publication, the breakpoint seemed to be located in intron 1, hence exon 2 derives from RHCE but is RHD-like, because the donating allele is Ce. Therefore, the allele is sometimes referred as RHD-CE(3-9)-D. The allele is probably identical to RHD-RHCe(2-9)-D_1>. There are other alleles, like RHD-RHCe(2-9)-D_2> and RHD(S68T)-RHCE(3-9)-D that give a similar PCR pattern. Frequency data given here are cumulative for all these alleles.

Last update: 2018-02-19 (yyyy-MM-dd)