RHD*01N.03 - RHD*D-CE(2-9)-D
(ISBT table: RHD negative v4.0)
RHD*01N.04 - RHD*D-CE(3-9)-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; 1170T>C; 1193A>T;
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; L390L; E398V;
Hybrid allele encompassing at least one RHCE exon:
RHD-RHCE(2-9)-RHD , RHD-RHCE(3-9)-RHD,
Comments on the molecular basis:
- in many cases studies do not or cannot distinguish RHD-RHCE(2-9)-RHD or RHD-RHCE(3-9)-RHD, thus data for ISBT alleles RHD*01N.03 and RHD*01N.04 are grouped; when seperated they are distinguished by RHD- or RHCE- specific polymorphisms in intron 1
- recombination occurred whithin the 4.2kb homologous region between RHD-specific sequence in Intron 1 and RHC-specific sequence in Intron 2, exon 2 could be RhD or RhC
- see also "Additional comments" section on the RhesusBase http://www.rhesusbase.info/RHDRHD-RHCe(2-9)-RHD.htm
- PCR-RFLP pattern and sequencing of exons 1 and 10; the origin of exon 2 could not be determined
- one sample tested positive for an RHD Intron 2–specific polymorphism and was assigned to RHD(1-2)-CE(3-9)-D(10)
- hybrid structure was deduced from the PCR pattern
- listed as RHD- CE(2-9)-D; see text for more details regarding possible breakpoint and the study regarding the origin of Exon 2; no evidence for the suballelic versions proposed in
11495631 - NGS
- Figure 2
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: D negative (DEL excluded) (last update: Aug. 9, 2020)Reports by D phenotype
Other RH phenotypes: RH:-2, -3, -4,
Serology with monoclonal anti-D
- 21 anti-D tested, results not detailed
- some anti-D tested, results not detailed; "Besides the investigation of D and RHD, we also examined all RBCs with anti-CD47, anti-CD241, and anti-LW by flow cytometry and found no significant differences in expression level compared to control RBCs (data not shown)"
- negative, with a panel of 10 monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: Ce is the most frequent association, ce is less frequent (last update: July 28, 2020)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 60 | 407 | 5 | 0 |
Ce | 26 | 57 | 1 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
- with Ce 1 sample (same sample as
- with ce 56 samples
- with Ccee 10 samples (study may overlap with
- with ccEe 4 samples
- with CcEe 5 samples
- with CCEe 1 sample
7 samples (including 3 homozygous)
12 samples
6 samples (1 homozygous)
1 sample
3 samples
29 samples (study may overlap with
1 sample
11 samples
39 samples
91 samples
17 samples
9 samples
22 samples
2 samples
23 samples (some samples may overlap with
57 samples
3 samples
67 samples (some samples may overlap with
13 samples (11 samples listed as RHD-CE(2-9)-D, 1 sample listed as RHD-CE(3-9)-D, 1 sample listed as RHD-CE(3-9)-D-Innsbruck)
5 samples
8 samples
1 sample
3 samples (in trans with RHef00283)
1 sample
40 samples
2 samples (some samples may overlap with
6 samples (some samples may overlap with
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: expected to be possible, see phenotype data
Reports
Summary: common allele, in D negative individuals mainly of European and Eastern Asian descent, or compatible with such descent (last update: Aug. 9, 2020)Detailed reports
- 1/28 samples donors with D negative phenotype White, in the Australian population
- 1 sample Black
- 11/8442 (3 with RHD-specific and 8 with RHCE-specific polymorphisms in intron 1) 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
- 8/102 102 samples with D negative phenoype by IAT (118 D negative among 41.921 first time donors, DNA was available for 95; 7 D negative pregnant women), 76 were true D negative and 26 DEL phenotypes in the Chinese population (Shenzen area, 96% Chinese Han)
- 13/204 donors with D negative phenotype Taiwanese
- 4/74 (+1 not fully typed but assumed) donors with D negative phenotype (adsorption-elution was not performed) Chinese Han
- 23/264 samples (or 23/528 alleles) (1 listed as RHD-CE(2-9)-D1, all others as RHD-CE(2-9)-D2) donors with D negative phenotype Korean
- 29/738 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 population, Tyrol
- 1/104 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 population, Bern and the canton of Bern
- 4/333 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
- 3/400 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
- 2/54 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
- 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
- 1/126 donors with D negative phenotype Korean, South Korea
- 26/163 donors with D negative phenotype in the Chinese population, reported by a lab from Shanghai
- 1/2012 2012 serologicaly D negative mothers, fetal genotyping showed some RHD gene in 26 in Portuguese population
- 2/23330 donor samples with D negative phenotype tested for RHD exons 4, 7 and 10 (94 were PCR positive, 74 weak D or DEL in subsequent serologic analysis) in the Austrian population, Upper Austria
- 11/23330 samples of donors with D negative phenotype, tested for RHD exons 4, 7 and 10 (94 were PCR positive, 74 weak D or DEL in subsequent serologic analysis) in the Austrian population, Upper Austria
- 84/733 donors with D negative phenotype Chinese (Shanghai)
- 1/1644 among donors with D negative phenotype, tested for RHD exons Danish (Copenhagen area)
- 1/239 among 2007 unrelated donors, 239 had D negative phenotype and were tested for RHD Intron 4 and Exon 10 in the Brazilian population (Sao Paulo, mainly racially mixed non-white skin color individuals)
- 1/101 among 2450 donors with D negative phenotype, tested for RHD specific polymorphisms (101 were positive for the polymorphisms) Brazilian, Southeast and Northeast Brazil
- 17/31200 consecutive donors with D negative phenotype, tested for presence of RHD intron 4, exon 7 and/or exon 10 in the Polish population
- 163/2493 donors with apparent D negative phenotype (108/2493 were in fact weak D or DEL) Han Chinese (Shanxi Province, Central China)
-
7/26243 donors with D negative phenotype in three studies with different inclusion criteria in the Swiss population, Zurich and Bern
(study may overlap with
24679597 ) -
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 ) -
28/25370 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 ) -
3/25370 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 ) - 2/1314 samples with apparent D negative phenotype White Argentineans
- 1/2027 2027 donors with D positive phenotyope, C and/or E positive, screened for RHD exons 4, 5 and 10 and for DEL phenotype in the Australian population
- 103/3526 donors with D negative phenotype Japanese
- 1 or more/37782 (heterozygous with RHef00447 because allele was not detected by the assay) 270 women with variant alleles among 37782 women with D negative phenotype, tested by quantitative fetal RHD genotyping designed to detect RHD exons 5 and 7 in the Dutch population
- 1 sample non invasive fetal RHD detection study in the Argentinean population (Rosario)
- 26/200 (18 hemizygous, 4 homozygous, 5 heterozygous) donors with D negative phenotype, tested by MPLA Chinese, Southern Han
- 2/200 (heterozygous with RHef00442) donors with D positive phenotype, tested by MPLA Chinese, Southern Han
- 1/662 among 662 pregnant patients with apparent D negative phenotype, enroled for fetal genotyping Caucasian, in the Australian population
- 29/171 (28 hemizygous + 1 heterozygous with RHD(702delG)) donors with D negative phenotype, C and/or E positive Indian
- 1/1174 donors with D negative phenotype United States population (Los Angeles)
- 1/61 donors with apparent D negative phenotype, with C and/or E positive Serbia
- 9/526 among donors with D negative phenotype, C and/or E positive, tested for presence of the RHD gene in the Argentinean population (Northwestern Argentina)
- 9/117 (7 hemizygous, 2 homozygous) among 132479 donors screened, 117 had D negative phenotype in the northeastern Chinese population, Liaoning
- 23/200 donors with D negative phenotype (DEL phenotype excluded) Thai
- 2/121 (including 1 heterozygous with RHef00283) donors with DEL phenotype Thai
- 5/129 (in trans with various alleles) donors with weak D phenotype Thai
- 1 sample (heterozygous with RHef00772) RH:–1,w2 donor African American
- 2/75 RH:–1,–4 or RH:–1,–5 donors reported by a French lab
- 8/185 RH:–1,–4 or RH:–1,–5 recipients reported by a French lab
- 8/310 (6 samples listed as RHD*Ce(3-9), 2 as RHD*Ce(361A,3-9) ) donors with D negative phenotype, C and/or E positive in the Italian population
- 3/3147 3147 D negative samples screened for RHD intron 3/intron 4, exon 7 and 3'UTR specific sequences, 36 were positive in Portuguese population, mainly central Portugal
- 4/274 donor with D negative phenotype Spanish
- 11/6523 D negative donors underwent molecular screening for RHD exons 7 and 10 (RHD sequences were detected in 23/6523) in the Croatian population
- 1 hemizygote listed as RHD*01N.03, 1 heterozygote listed as RHD*01N.04, 1 heterozygote listed as RHD*D−CE(2−9)−D 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
- 1/15152 (CI: 1/5610 - 1/55568) for allele with RHD-specific polymorphisms in intron 1 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)
- 1/5682 (CI: 1/3046 - 1/13837) for allele with RHCE-specific polymorphisms in intron 1 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)
- 0.002081 estimated allele frequency in population in the Chinese population (Shenzen area, 96% Chinese Han)
- 0.039216 estimated allele frequency in individuals with D negative phenotype in the Chinese population (Shenzen area, 96% Chinese Han)
- 0.034 calculated allele frequency in donors with D negative phenotype (adsorption-elution was not performed) Chinese Han
- 1/4817 (CI: 1/784 - 1/17663) 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
- 1/640 (CI: 1/453 - 1/974) 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
- 1/1911 (CI: 1/796 - 1/5594) 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
- 0.0798 calculated allele frequency in donors with D negative phenotype in the Chinese population, reported by a lab from Shanghai
- 1/2120 (CI: 1/1282 - 1/3788) estimated allele frequency in individuals with D negative phenotype in the Austrian population, Upper Austria
- 1/11665 (CI: 1/3704 - 1/66667) estimated allele frequency in individuals with D negative phenotype in the Austrian population, Upper Austria
- 5.93 calculated allele frequency in individuals with D negative phenotype in the Chinese population (Shanghai)
- 1/1835 (CI: 1/1714 - 1/5058) estimated allele frequency in individuals with D negative phenotype in the Polish population
- 0,00287 calculated allele frequency in the northeastern Chinese Liaoning Province population
- 1/58 calculated allele frequency among donors with D negative and C and/or E positive phenotype in the Croatian population
- 1/593 calculated allele frequency among donors with D negative phenotype in the Croatian population
Structure mapping
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Links
The Human RhesusBase The Human RhesusBase The Human RhesusBaseGenbank: S83379 AJ633649 AJ633650 AJ633651
Erythrogene
References
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Last update: Jan. 8, 2021