RHD-RHCE(4-7)-RHD

Structure

RHD-RHCE(4-7)-RHD

Key changes from standard allele

Hybrid RHCE(4-7)

ISBT allele designation

RHD*01N.07

Nucleotide changes relative to "standard RHD"

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]

Amino acid changes relative to standard protein

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

ISBT group

RHD negative

Phenotype characterization and grouping

D negative; DEL

Haplotype (typical)

cDE

Allele cluster

Eurasian D cluster

Descriptions

First full publication: 1996 Faas BH et. al. Transfusion. 1996 Jun;36(6):506-11.

Other relevant descriptions:
RHD-CE(4-7)-D1, RHD-CE(4-7)-D2 Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.
cE-association of RHD-CE(4-7)-D2 Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38.

Serology

D negative, G positive Faas BH et. al. Transfusion. 1996 Jun;36(6):506-11.
DEL (CcDe phenotype) Gu J et. al. BMC Med Genet. 2014 May 5;15:54

Observations

South-Western Germany: Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16. Frequency 1:12.912
China (general): 1 of 41 DEL probands among 42306 probands Gu J et. al. BMC Med Genet. 2014 May 5;15:54
Poland (general): Ccee sample! Orzinska A et. al. Transfusion. 2013 Nov;53(11 Suppl 2):2945-53. doi: 10.1111
Tunisia (general): Moussa H et. al. Transfus Med. 2012 Mar 16. doi: 10.1111/j.1365-3148.2012.01142.x.
Tyrol: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38.

Related Alleles

RHCE(1-9)-RHD [RHCE(1-9)-RHD]
RHD-RHCE(2-10) [RHD-RHCE(2-10)]
RHD-RHCe(2-7)-RHD [RHD-RHCE(3-7)-RHD]
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)-RHD [RHD-RHCe(2-9)-RHD]
RHD-RHCe(2-9)-RHD1 [RHD-RHCE(3-9)-RHD]
RHD-RHCe(2-9)-RHD2 [RHD-RHCE(3-9)-RHD]
RHD-RHCE(4-7)-RHD1 [RHD-RHCE(4-7)-RHD]
RHD-RHCE(4-7)-RHD2 [RHD-RHCE(4-7)-RHD]
RHD-RHCE(4-8)-RHD [RHD-RHCE(4-7)-RHD]
RHD-RHCE(4-9)-RHD [RHD-RHCE(4-9)-RHD]

Additional comments

Exon 8 of RHD and RHCE do not differ, therefore the extent of the substitution is generally derived from intron polymorphism. Hence, it is unknown whether the initial description related to an RHD-CE(4-7)-D or RHD-CE(4-8)-D hybrid. Lateron, several alleles have been described that share a similar substitution:
(i) RHD-CE(4-7)-RHD₁ with cDE association, in which the substitution includes intron 8
(ii) RHD-CE(4-7)-RHD₂ with cDE haplotype association, in which the substitution does not include intron 8
Both alleles may be identical to the intial description (iii)RHD-CE(4-8)-RHD with CDe association, in which the substitution includes intron 8
This latter allele differs from the initial description by the haplotype association

Last update: 2018-02-18 (yyyy-MM-dd)