RHD-RHCe(2-7)-RHD

Structure

RHD-RHCE(3-7)-RHD

Key changes from standard allele

Hybrid RHCE(3-7)

ISBT allele designation

RHD*01N.05

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]

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

Haplotype (typical)

CDe

Allele cluster

Eurasian D cluster

Descriptions

First full publication: 2001 Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.

Other relevant descriptions:
RHD-RHCE(2-8)-RHD Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38.

ISBT group

RHD negative

Phenotype characterization and grouping

D negative

Serology

D negative Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.

Observations

Northern Germany: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38. Frequency 1:3.613
South-Western Germany: 2 different sub-alleles, 2 samples each Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16. Frequency 1:11.363
Poland (general): Orzinska A et. al. Transfusion. 2013 Nov;53(11 Suppl 2):2945-53. doi: 10.1111
Ljubljana region: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38.
Tyrol: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38.

Additional comments

Exon 2 is RHD-like but probably derives from RHCE (C allele). Two molecular forms have been distinguished in the initial description based on the results for RHD-specific polymorphisms in intron 1 (-1173) and intron 8(+1114). RHD-HCE(2-7)-D1 lacked RHD-specific results in intron 2 and intron 8, RHD-HCE(2-7)-D2 was positive. Thus, the substitution certainly includes exons 2 and 8 in RHD-HCE(2-7)-D2 but may be as small as exon 3 to 7 in RHD-HCE(2-7)-D2. The findings described for RHD-RHCE(2-8)-D are ccompatible with those described for RHD-RHCE(2-7)-RHD2

Last update: 2016-08-28 (yyyy-MM-dd)