RHD-RHCE(8-9)-RHD

Structure

RHD-RHCE(8-9)-RHD

Key changes from standard allele

Hybrid RHCE(8-9)

ISBT allele designation

No designation assigned

Nucleotide changes relative to "standard RHD"

c.[1170 T>C;1193 A>T]

Amino acid changes relative to standard protein

, E398V

ISBT group

Phenotype characterization and grouping

D negative

Haplotype (typical)

CDe

Allele cluster

Eurasian D cluster

Descriptions

First full publication: 1997 Gassner C et. al. Transfusion. 1997 Oct;37(10):1020-6.

Other relevant descriptions:
Exon 8 also RHCE Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.

Serology

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

Observations

South-Western Germany: Also observed in a SCARF sample Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16. Frequency 1:4.132

Related Alleles

DBT-2 [RHD-RHCe(5-9)-RHD]
DHAR [RHCE-RHD(5)-RHCE]
DIV type 3 [RHD-RHCE(6-9)-RHD]
DIV type 5 [RHD-RHCE(7-9)-RHD]
DIVb (J) [RHD-RHCE(7-9)-RHD]
DIVb type 2 [RHD-RHCE(7:1048-9)-RHD]
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)-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(4-9)-RHD [RHD-RHCE(4-9)-RHD]

Additional comments

This PCR pattern does not follow the â??lack of exon 4 to 7â?? rule usually found in D negative RHD-RHCE-RHD hybrid alleles. It is likely that the lack of RHD polymorphisms in exon 8 and 9 represent a deletion or complex rearrangement rather than a simple hybrid.

Last update: 2012-03-25 (yyyy-MM-dd)