RHD*01N.01
(ISBT table: RHD negative v4.0)
This entry is an RHD allele.
RHD deletion, RHD deletion (RHD*01N.01),
Molecular data
Nucleotides:
exon deletion(s);
Amino acids: exon deletion(s) [1, 2, 3, 4, 5, 6, 7, 8, 9, 10];
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
- Explanation of how the RHD deletion occurred
- RHD-specific miRNA expression level quantification compared to RHef00122
- some characterized, some assumed, all occurrences are listed here
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, -5,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: ce is the most frequent association, all associations are possible (last update: June 23, 2020)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 5357 | 1053 | 1709 | 0 |
Ce | 51 | 173 | 3 | |
cE | 608 | 22 | ||
CE | 0 |
Reports by CcEe phenotype
- with ce 1252 samples
- with cE 2 samples
- with Ce 6 samples
- with Ccee 201 samples
- with CcEe 37 samples
- with ccEe 64 samples
- with CCEe 1 sample
- with cCEE 22 samples
157 samples
1192 samples
103 samples
72 samples
875 samples
108 samples (some samples may overlap with
514 samples (some samples may overlap with
25 samples
58 samples
4 samples
0 samples (Figure 2; presented as a general association, no sample count)
992 samples
5 samples (in trans to other alleles)
3 samples
1 sample (in trans to other alleles)
598 samples
4 samples
27 samples
8 samples
4 samples
1 sample (some samples may overlap with
5 samples (some samples may overlap with
267 samples
3 samples
63 samples
94 samples
2 samples
127 samples
39 samples
17 samples (some samples may overlap with
84 samples (some samples may overlap with
149 samples (99 homozygous, 50 heterozygous with various alleles)
1 sample
6 samples (in trans to other alleles)
4 samples
6 samples
3 samples
117 samples
5 samples
1 sample (in trans to other alleles)
148 samples
33 samples
25 samples
11 samples
18 samples
1342 samples
3 samples (some samples may overlap with
22 samples (some samples may overlap with
20 samples (19 homozygous, 1 heterozygous with another allele)
23 samples
2 samples
Reports by allele association
- RHCE*ce(48C,733G,1006T) (RHCE*ce.20.03)
- RHCE*01
- RHCE*01.01 (RHCE*48C)
- RHCE*ceAG (RHCE*01.06.01)
- RHCE*01.20.01 (RHCE*733G)
- RHCE*01.20.02 (RHCE*ce48,733)
- RHCE*01.20.01 (RHCE*733G) or RHCE*01
- RHCE*02 or RHCE*03
- RHCE*02 or RHCE*01
- RHCE*02 or RHCE*ceTI
- RHCE*02 or RHCE*ce733G
- RHCE*ceAG or RHCE*ce733G
- RHCE*01.01 or RHCE*ce479G, 733G
- RHCE*01 or RHCE*01.01
- RHCE*Ce or RHCE*ce(1123A)
- RHCE*ce or RHCE*ce(285T)
- RHCE*Ce or RHCE*ceLOCR
- RHCE*Ce or RHCE*ceSL.02
- RHCE*Ce or Duplication RHCE*ce
- RHCE*Ce.26 or RHCE*ce
- RHCE*cEEW or RHCE*ce
- RHCE*Ce(436T) or RHCE*ce
- RHCE*Ce(462T) or RHCE*ce
- RHCE*Ce(1153C) or RHCE*ce
- RHCE*Ce−D(2)−Ce or RHCE*ce
- RHCE*CeN.08 or RHCE*ce
- RHCE*CeRN or RHCE*ce
- RHCE*cE or RHCE*ce
- RHCE*cE(92C) or RHCE*Ce
- RHCE*cE(281C,282T) or RHCE*Ce
- RHCE*cE(341A) or RHCE*ce
- RHCE*cE(697G) or RHCE*ce
- RHCE*02
- RHCE*Ce or RHCE*ce.01
- RHCE*03
- RHCE*CeCW or RHCE*ce
- RHCE*ceVS.01 or RHCE*ceCF
- RHCE*ceTI or RHCE*ceAG
- RHCE*03 or RHCE*01
- RHCE*ceAR or RHCE*ce
- RHCE*ceAR or RHCE*ceVS.03(609A)
- RHCE*ceVS.02(900T) or RHCE*ce
- RHCE*ceVS.04 or RHCE*ce
- RHCE*ceVS.04 or RHCE*ceAG
- RHCE*DAR3.1(31T) or RHCE*ceCF
- RHCE*ceCF or RHCE*ce.16
- RHCE*ceVS.02 or RHCE*ce
- RHCE*ce or RHCE*ceAG
- RHCE*ce.01 or RHCE*ce
- RHCE*ce.01 or RHCE*ce.01(105T)
- RHCE*ce.01 or RHCE*ceAG
- RHCE*ce.01(520A) or RHCE*ce.01
- RHCE*ce.01 or RHCE*ceVS.01
- RHCE*cE.03.02 or RHCE*ce
- RHCE*ce or RHCE*Ce(117A)
- RHCE*ce or RHCE*CeCX
- RHCE*ce or RHCE*ceVS.02
- RHCE*ce or RHCE*ceVS.01
- RHCE*ceVS.01 or RHCE*ce−D(9)−ce
- RHCE*ceVS.01 or RHCE*ceBI
- RHCE*ceAG.02 or RHCE*ceBI
- RHCE*ceCF or RHCE*ce
- RHCE*ceVS.02 or RHCE*ceVS.03
- RHCE*ceAG or RHCE*ceTI
- RHCE*ceEK or RHCE*ceTI
- RHCE*ce.10.02
- RHCE*ce.35
- RHCE*ceCF
- RHCE*ceHAR
- RHCE*ceVS.01(545G)
- RHCE*ce(234T)
- RHCE*ce(335+1A)
- RHCE*ce(361del2)
- RHCE*02 or RHCE*ceAG
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: main basis for D negative phenotype, described in all populations (last update: June 12, 2020)Detailed reports
- 26/28 samples donors with D negative phenotype in the Australian population
- 64/102 + 4/6 102 samples with D negative phenotype 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) (6 samples) (102 samples)
- 150/204 donors with D negative phenotype Taiwanese
- 108/156 donors with D negative phenotype Taiwanese
- 185/294 D negative Taiwan Chinese
- 46/74 donors with D negative phenotype (adsorption-elution was not performed) Chinese Han
- 196/264 samples (or 459/528 alleles) donors with D negative phenotype Korean
- 94/126 donors with D negative phenotype Korean, South Korea
- 129/163 donors with D negative phenotype in the Chinese population, reported by a Shanghai lab
- 2423/2427 among 3 first-time donors without D expression but with amplification of RHD exons 4, 7, and 10 whithin 44,743 donors tested in the Austrian population, Upper Austria
- 59/110 random individuals with D negative phenotype Congolese, city of Brazzaville
- 84/733 donors with D negative phenotype Chinese, Shanghai
- 12/60 (5/21 donors, heterozygous with RHef00058; 7/39 patients, 6 heterozygous with RHef00058, 1 with RHef00672) among 60 individuals (21 donors, 39 patients) phenotyped as RH:54 and/or submitted for investigation to determine the RH genotype in the USA population (inferred African American)
- 217/239 among 2007 unrelated donors, 239 phenotyped as D negative were tested for RHD Intron 4 and Exon 10 in the Brazilian population, mainly racially mixed non-white skin color individuals, Sao Paulo
- 11/11 random donors with D negative phenotype included for the development of a genotyping assay in the Dutch population
- 9/430 among samples with ambigous D phenotype in the French population (Table S1)
- 39/39 among 308 donors (269 D positive, 39 D negative phenotype) who underwent molecular analysis in the Tunisian population
- 31137/31200 consecutive donors with D negative phenotype, tested for presence of RHD intron 4, exon 7 and/or exon 10 in the Polish population
- 52 alleles in 226 patients SCD children systematically genotyped in an alloimmunization study in the USA population, Philadelphia
- 24/316 316 (280 D positive and 36 D negative) donors were genotyped African descent (FY:-1,-2) in the French population
-
218/2000 among 2000 random donors (223 typed D negative), genotyped by amplifying RHD exons through 7 and 9 in the Tunisian population
(study may overlap with
25369614 ) - 0/127 (at the homozygous state) the cohort was composed of 77 Tswa from Congo, 36 Biaka from Central African Republic, 14 Mbuti from Democratic Republic of the Congo Pygmoid Central African
- 3/220 (at the homozygous state) the cohort was composed of 164 Teke-Congolese (ethnic groups: 60 Akwa, 52 Mbochi, 52 Kuyu) from Congo, 19 Mandenka from Senegal, 25 Yoruba from Nigeria, 12 Bantu from Kenya Nonpygmoid Central African
- 1685/2493 (homozyguous) donors with apparent D negative phenotype (108/2493 were in fact weak D or DEL) Han Chinese (Shanxi Province, Central China)
-
25250/25370 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 ) - 1287/1314 samples with apparent D negative phenotype White Argentineans
- 4/48 (and several hemizygous samples, according to RHD zygosity determination) among 48 SCD patients with RH antibodies despite antigen-matched transfusion protocols African Brazilian
- 32/35 donors with D negative phenotype who underwent molecular analysis in the Tunisian population
- 3091/3526 donors with D negative phenotype (homozygous for RHef00446) Japanese
- 288/298 pregnant D negative women who underwent non-invasive fetal RHD detection in the Argentinean population (Rosario)
- 55/400 among random blood and bone marrow donors genotyped for RHD in the Brazilian population (Parana state, Southern Brazil)
- 79/110 among members of the RhD-negative club Korean
- 20/35 samples were hemizygous SCD patients with unexplained RH antibodies, explored by NGS sequencing in the Brazilian population (Sao Paolo)
- 12/200 (heterozygous with RHef00442) D positive donors tested by MPLA Chinese, Southern Han
- 127/200 (+61 hemizygous) donors with D negative phenotype, tested by MPLA Chinese, Southern Han
- 74/95 donors with apparent D negative phenotype Korean
- 647/662 among 662 pregnant patients with apparent D negative phenotype, enroled for fetal genotyping Turkish (in the Australian population)
- 118/171 (homozygous, +51 heterozygous with another silent allele) donors with D negative phenotype, C and/or E positive Indian
- 1115/1174 donors with D negative phenotype United States population (Los Angeles)
- 83/92 donors with apparent D negative phenotype, C and/or E positive Bosnia Herzegovina
- 55/61 donors with apparent D negative phenotype, C and/or E positive Serbia
- 425/526 among donors with D negative phenotype, C and/or E positive, tested for presence of the RHD gene in the Argentinean population (Northwestern Argentina)
- 1301/1403 1043 donors with D negative phenotype among 10417 random donors, were screened for RHD gene in the Brazilian population, Sao Paolo
- 256/517 in a population of 67428 random donors, 8042 had D negative phenotype, among those, 517 were C and/or E phenotype and were screened for RHD gene in the Brazilian population (Sao Paolo)
- 78/117 among 132479 donors screened, 117 had D negative phenotype in the northeastern Chinese Liaoning Province population
- 88/129 (in trans with various alleles) donors with weak D phenotype Thai
- 150/200 (homozygous) donors with D negative phenotype (DEL phenotype excluded) Thai
- 265/310 donors with D negative phenotype, C and/or E positive in the Italian population
- 10 homozygotes and 189 hemizygotes 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
- 0.14 estimated haplotype frequency Malian
- 92.9 calculated allele frequency in individuals with D negative phenotype in the Chinese population (Shanghai)
- 1/22 (CI: 1/30 - 1/17) (for RHef00446 with RHCE:2,-3,4,5 or RH:2,3,4,5 phenotypes only) estimated allele frequency in donors with D negative phenotype United States population (Los Angeles)
- 0.59 - 0.91 estimated frequency in donors with apparent D negative phenotype (including DEL) Korean (South Korea)
- 0.040831 estimated allele frequency in the Chinese population (Shenzen area, 96% Chinese Han)
- 0.199 allele frequency from molecular typing of 101 random samples Dogon Malian
- 0.769608 estimated allele frequency in individuals with D negative phenotype in the Chinese population (Shenzen area, 96% Chinese Han)
- 0.75685 theoretical allele frequency in individuals with D negative phenotype Congolese (from the city of Brazzaville)
- 0.014 allele frequency among 140 SCD patients African American (in the USA population)
- 0.035 allele frequency among 480 African American donors African American (in the USA population)
- 0.147 allele frequency from molecular typing of 46 random samples Fulani Malian
- 0.433 frequency of the association with dce haplotype in donors homozygous for RHef00446 Japanese
- 0.527 frequency of the association with dcE haplotype in donors homozygous for RHef00446 Japanese
- 0.00244 calculated genotype frequency of homozygous RHef00446 in the northeastern Chinese Liaoning Province population
- 0.04937 calculated allele frequency in the northeastern Chinese Liaoning Province population
Structure mapping
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References
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Last update: Jan. 14, 2021