RHD(1227G>A)

Structure

RHD(1227G>A)

Key changes from standard allele

1227G>A

ISBT allele designation

RHD*01EL.01
RHD*DEL1

Nucleotide changes relative to "standard RHD"

c.1227 G>A

Amino acid changes relative to standard protein

ISBT group

DEL

Phenotype characterization and grouping

DEL

Phenotypes observed

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

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:
Singleton BK et al. Transf. Clin. Biol. 8 (suppl. 1) 2001; 9S
JQ424879 (submitted 2012-01-18, released 2012-04-03)
Transcripts are misspliced. Shao CP et. al. Transfus Apher Sci. 2006 Apr;34(2):145-52
Splice variant AY751492 (submitted 2004-09-11, released 2006-06-07)
Splice variant AY751493 (submitted 2004-09-11, released 2006-06-07)
Splice variant AY751495 (submitted 2004-09-11, released 2006-06-07)
Splice variant AY751496 (submitted 2004-09-11, released 2006-06-07)
Splice variant AY751494 (submitted 2004-09-11, released 2006-06-07)
Splice variant AY751491 (submitted 2004-09-11, released 2006-06-07)
Intron 7+9 EU372941 (submitted 2008-01-04, released 2010-02-04)
Intron 7+9 EU372942 (submitted 2008-01-04, released 2010-02-04)
AF390110 (submitted 2001-06-12, released 2002-09-13)

Serology

Kormoczi GF et. al. Transfusion. 2005 Oct;45(10):1561-7.
DEL Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16.
induced anti-D immunization A) DEL red Ann Lab Med. 2015 Sep;35(5):554-6. doi: 10.3343/alm.2015.35.5.554." target= "_blank">Yang HS et. al. Ann Lab Med. 2015 Sep;35(5):554-6. doi: 10.3343/alm.2015.35.5.554.

Observations

China (general): Major DEL allele Shao CP et. al. Vox Sang. 2002 Aug;83(2):156-61. Frequency 1:120
China (general): Xu Q et. al. Vox Sang. 2005 Jan;88(1):35-40.
China (general): 37 of 42306 probands; 37 of 41 DEL probands Gu J et. al. BMC Med Genet. 2014 May 5;15:54
Korea (south, general): Major DEL allele: 8.1 % among DEL / Dneg Koreans Kim JY et. al. Transfusion. 2005 Mar;45(3):345-52.
South-Western Germany: Wagner FF et. al. BMC Genet. 2001;2:10. Epub 2001 Jul 16. Frequency 1:9.091
Tyrol: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38. Frequency 1:18.550
China (general): 8 of 32 samples with weak D phenotype He J et. al. Transfusion. 2015 Jan;55(1):137-43. doi: 10.1111/trf.12797. Epub 2014 Jul 29.
Xian: 516 of 2493 samples D negative in saline; possible cDe haplotype confirmed in family analysis Ye SH et. al. Blood Transfus. 2014 Jul;12(3):396-404. doi: 10.2450/2013.0121-13. Epub 2013 Dec
Ljubljana region: Gassner C et. al. Transfusion. 2005 Apr;45(4):527-38.

Related Alleles

RHD(255G>A, 1227G>A,) [RHD(255G>A, 1227G>A,)]
RHD(IVS7+152C>A,1227G>A) [RHD(IVS7+152C>A,1227G>A)]

Additional comments

This allele is the by far most frequent DEL allele in China. Initially, its structure was misinterpreted as RHD(del Ex9). The correct structure was first identified during a screen for D negatives in South-Western Germany that was initially deposited as patent application (May 2000, open accessible since May 2001) and published by Wagner et al. in BMC Genet 2001. Independently, a partial sequence of the allele was described in an abstract in the June 2001 issue of Transfusion Clinique Biologique by Singleton et al..To emphasize the structural basis of the (unchanged) protein, a novelty at the time, this allele was originally called RHD(K409K). Later the term RHD(1227G>A), based on the nucleotide structure, became more widely used..

Last update: 2018-05-23 (yyyy-MM-dd)