RHD*01N.05 - RHD*D-CE(2-7)-D
(ISBT table: RHD negative v4.0)
This entry is an hybrid RHD allele.
Molecular data
Nucleotides:
361T>A; 380T>C; 383A>G; 455A>C; 505A>C; 509T>G; 514A>T; 544T>A; 577G>A; 594A>T; 602C>G; 667T>G; 697G>C; 712G>A; 733G>C; 744C>T; 787G>A; 800A>T; 916G>A; 932A>G; 941G>T; 968C>A; 974G>T; 979A>G; 985GG>CA deletion-insertion; 989A>C; 992A>T; 1025T>C; 1048G>C; 1053C>T; 1057GGA>TGG deletion-insertion; 1060GC>AA deletion-insertion;
Amino acids: L121M; V127A; D128G; N152T; M169L; M170R; I172F; S182T; E193K; K198N; T201R; F223V; E233Q; V238M; V245L; S248S; G263R; K267M; V306I; Y311C; G314V; P323H; S325I; I327V; G329H; Y330S; N331I; I342T; D350H; T351T; G353W; A354N;
Hybrid allele encompassing at least one RHCE exon:
RHD-RHCE(2-8)-RHD , RHD-RHCE(2-7)-RHD , RHD-RHCE(3-7)-RHD , RHD-RHCE(3-8)-RHD,
Comments on the molecular basis:
- in many cases studies do not or cannot distinguish RHD-RHCE(2-7)-RHD, RHD-RHCE(3-7)-RHD, RHD-RHCE(2-8)-RHD, RHD-RHCE(3-8)-RHD; when seperated they are distinguished by RHD- or RHCE- specific polymorphisms in intron 1 and 8
- see also "Additional comments" section on the RhesusBase http://www.rhesusbase.info/RHDRHD-RHCe(2-7)-RHD.htm
- structure RHD-CE(3-8)-D by QMPSF analysis
- listed as RHD-CE(2-8)-D; see text for more details regarding possible breakpoint and the study regarding the origin of Exon 2
- hybrid structure was deduced from the PCR pattern
- NGS
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: D negative (DEL excluded) (last update: Aug. 7, 2020)Reports by D phenotype
- D negative
- Adsorption-elution was only performed for alleles with RHD-specific polymorphisms in intron 1 and 8; authors deem unlikely that RHCE-specific polymorphisms at these positions would change the phenotype
Other RH phenotypes: RH:2, -3,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: Ce? (last update: Jan. 8, 2021)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 0 | 49 | 0 | 0 |
Ce | 0 | 0 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: D negative, at risk for anti-D (last update: Aug. 25, 2020)Detailed information
Antibodies in D negative recipients
Alloimmunization in recipients: not expected, see phenotype data
Reports
Summary: many descriptions, in various populations (last update: June 12, 2020)Detailed reports
- 4/8442 (2 with RHD-specific and 2 with RHCE-specific polymorphisms in introns 1 and 8) 8442 donors with D negative phenotype, screened for presence of the RHD gene in two surveys; 754 donors were C and/or E positive, the rest were ccee phenotype; 5 donors were revealed to be weakly D positive in the German population (Baden-Wurttemberg)
- 0/333 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Slovenian population
- 4/400 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the German (states of Lower Saxony, Saxony- Anhalt, Thuringia, Oldenburg, and Bremen) population
- 0/71 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Russian (Kirov Oblast) population
- 0/738 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Austrian (state of Tyrol) population
- 0/104 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Swiss (Bern and the canton of Bern) population
- 0/54 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the German (city of Braunschweig and eastern parts of Lower Saxony) population
- 12/126 donors with D negative phenotype Korean (South Korea)
- 1/733 donors with D negative phenotype Chinese (Shanghai)
- 1/7 donors with D negative phenotype (out of donor population 22000), C or E positive (leaves: 233 donors) and amplification of RHD exon 10 (leaves:7) Danish
- 1/448 448 donors with D negative phenotype, tested for the presence of RHD exon 10 in the Tunisian population
- 1/31200 consecutive donors with D negative phenotype, tested for presence of RHD intron 4, exon 7 and/or exon 10 in the Polish population
-
3/26243 donors with D negative phenotype in three studies with different inclusion criteria in the Swiss population (Zurich and Berne)
(study may overlap with
24679597 ) -
17/25370 donors with D negative phenotype, screened for RHD exons 3 or 7, plus 5 and 10 in the Swiss population
(study may overlap with
24656493 ) - 3/2027 2027 donors with D negative phenotype, C and/or E positive, screened for RHD exons 4, 5 and 10 and for DEL phenotype in the Australian population
- 1/200 donors with D negative phenotype, tested by MPLA Chinese, Southern Han
- 1/662 among 662 pregnant patients with apparent D negative phenotype, enroled for fetal genotyping Turkish (in the Australian population)
- 15/171 (hemizygous) donors with D negative phenotype, C and/or E positive Indian
- 2/200 donors with D negative phenotype (DEL phenotype excluded) Thai
- 1/310 donors with D negative phenotype, C and/or E positive in the Italian population
- 7/3147 3147 samples with D negative phenotype, screened for RHD intron 3/intron 4, exon 7 and 3'UTR specific sequences, 36 were positive in Portuguese population (mainly central Portugal)
- 2/274 donor with D negative phenotype Spanish
- 3 hemizygotes, listed as RHD*D-CE(2-8)-D, RHD*D-CE(3-7)-D and RHD*D-CE(3-8)-D, respectively among 278 samples selected for the development of nonspecific quantitative next-generation sequencing. (non-random samples, may have been reported in other studies)
Allele or phenotype frequency
- 1/22727 (CI: 1/6798 - 1/128041) for allele with RHD-specific polymorphisms in introns 1 and 8 estimated allele frequency by testing 8442 donors with D negative phenotype, screened for presence of the RHD gene in two surveys; 754 donors were C and/or E positive, the rest were ccee phenotype; 5 donors were revealed to be weakly D positive in the German population (Baden-Wurttemberg)
- 1/22727 (CI: 1/6798 - 1/128041) for allele with RHCE-specific polymorphisms in introns 1 and 8 estimated allele frequency by testing 8442 donors with D negative phenotype, screened for presence of the RHD gene in two surveys; 754 donors were C and/or E positive, the rest were ccee phenotype; 5 donors were revealed to be weakly D positive in the German population (Baden-Wurttemberg)
- allele not observed, lowest estimate: 1/5646 estimated allele frequency in samples with D negative phenotype but C and/or E positive, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Austrian (state of Tyrol) population
- 1/3613 (CI: 1/1506 - 1/10577) estimated allele frequency in samples with D negative phenotype but C and/or E positive, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the German (states of Lower Saxony, Saxony- Anhalt, Thuringia, Oldenburg, and Bremen) population
- allele not observed, lowest estimate: 1/2326 estimated allele frequency in samples with D negative phenotype but C and/or E positive, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Slovenian population
- 0.07 calculated allele frequency in individuals with D negative phenotype in the Chinese population (Shanghai)
- 1/31200 (CI: 1/6577 - 1/608187) estimated allele frequency in individuals with D negative phenotype in the Polish population
- 0.007 allele frequency among 480 African American donors African American (in the USA population)
- 0.0 allele frequency among 140 SCD patients African American (in the USA population)
Structure mapping
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References
- International Society of Blood Transfusion et al. International Society of Blood Transfusion (ISBT) allele table Online ressource, 1935. — Online ressource — [RHeference]
- Wagner FF et al. RHD positive haplotypes in D negative Europeans. BMC Genet, 2001. [Citation] [RHeference]
- Gassner C et al. Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study. Transfusion, 2005. [Citation] [RHeference]
- Luettringhaus TA et al. An easy RHD genotyping strategy for D- East Asian persons applied to Korean blood donors. Transfusion, 2006. [Citation] [RHeference]
- Nogues N et al. RHD null alleles in the Spanish population Vox Sanguinis, 2007. — Abstract — [RHeference]
- J. Pereira et al. RHD Null Alleles in the Portuguese Population Transfusion Medicine, 2009. — Abstract — [RHeference]
- Ye L et al. Molecular bases of unexpressed RHD alleles in Chinese D- persons. Transfusion, 2009. [Citation] [RHeference]
- Christiansen M et al. RHD positive among C/E+ and D- blood donors in Denmark. Transfusion, 2010. [Citation] [RHeference]
- Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [RHeference]
- Moussa H et al. Molecular background of D-negative phenotype in the Tunisian population. Transfus Med, 2012. [Citation] [RHeference]
- Orzińska A et al. RHD variants in Polish blood donors routinely typed as D-. Transfusion, 2013. [Citation] [RHeference]
- Crottet SL et al. Implementation of a mandatory donor RHD screening in Switzerland. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Gowland P et al. Molecular RHD screening of RhD negative donors can replace standard serological testing for RhD negative donors. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Reid ME et al. Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease. Blood Cells Mol Dis, 2014. [Citation] [RHeference]
- Ye SH et al. A comprehensive investigation of RHD polymorphisms in the Chinese Han population in Xi'an. Blood Transfus, 2014. [Citation] [RHeference]
- Scott SA et al. The RHD(1227G>A) DEL-associated allele is the most prevalent DEL allele in Australian D- blood donors with C+ and/or E+ phenotypes. Transfusion, 2014. [Citation] [RHeference]
- Ji YL et al. RHD genotype and zygosity analysis in the Chinese Southern Han D+, D- and D variant donors using the multiplex ligation-dependent probe amplification assay. Vox Sang, 2017. [Citation] [RHeference]
- Hyland CA et al. Non-invasive fetal RHD genotyping for RhD negative women stratified into RHD gene deletion or variant groups: comparative accuracy using two blood collection tube types. Pathology, 2017. [Citation] [RHeference]
- Kulkarni SS et al. RHD-Positive Alleles among D- C/E+ Individuals from India. Transfus Med Hemother, 2018. [Citation] [RHeference]
- Izaskun Apraiz et al. Performance Evaluation Study of ID RHD XT as a Molecular Tool for RHD Gene Screening in Pooled Blood Samples of Serologically D− C/E+ Donors Transfusion, 2019. — Abstract — [RHeference]
- Thongbut J et al. Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors. Transfus Med Hemother, 2020. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]
Last update: Jan. 8, 2021