The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals

Ying, Yanling; Zhang, Jingjing; Hong, Xiaozhen; Xu, Xianguo; He, Ji; Zhu, Faming

doi:10.3389/fimmu.2021.755661

Cited by 8 publications

(8 citation statements)

References 44 publications

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“…The working group recommends RHD genotyping for patients with serologically weak D phenotype and suggests that weak D types 1, 2, and 3 patients can be safely managed as D+. However, the RHD weak D type 1 , 2 , and 3 alleles, the most frequent weak D alleles in Caucasians, 11–14 were not identified or rarely detected in our study and other previous reports in the Chinese population 16,17,22,28–32 . Therefore, detecting weak D type 1 , 2 , and 3 alleles for Chinese D variant patients is unnecessary.…”

Section: Discussioncontrasting

confidence: 90%

“…DVI type 3 and weak D type 15 were the most common D variants in the Southern (this study), Eastern, 16,22,28,31,32 Northeastern, 29 and Western 30 regions of China, and together comprised over half of all Chinese D variant samples. DVI is the most common D variant associated with anti‐D production; 5 thus, patients with DVI type 3 phenotype should be treated as D– recipients in clinics.…”

Section: Discussionmentioning

confidence: 60%

“…However, the RHD weak D type 1, 2, and 3 alleles, the most frequent weak D alleles in Caucasians, [11][12][13][14] were not identified or rarely detected in our study and other previous reports in the Chinese population. 16,17,22,[28][29][30][31][32] Therefore, detecting weak D type 1, 2, and 3 alleles for Chinese D variant patients is unnecessary. In addition, weak D type 15, which is the common D variant phenotype in Chinese D variant individuals, was also the common D variant phenotype in other Eastern Asian populations including Japanese 33 and Korean populations.…”

Section: Discussionmentioning

confidence: 99%

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Molecular and serological analysis of the D variant in the Chinese population and identification of seven novel RHD alleles

et al. 2022

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Background The molecular basis of the D variant phenotype in the Chinese differs greatly from that of the Caucasian. Adapting a specific D typing strategy to the spectrum of prevalent RHD variant alleles is necessary. Study Design and Methods Blood samples with ambiguous D phenotypes were collected in the Southern Chinese population. A special three‐step typing strategy was applied. First, the common DVI type 3 was identified from epitope profiles of D antigen. Then, another common weak D type 15 (RHD*845A) was identified by epitope profiles of D antigen and Sanger sequencing of RHD exon 6. Finally, the remaining D variants were genotyped mainly by Sanger sequencing. For the novel RHD alleles in the coding region and exon–intron junction, in vitro transfection and minigene splicing assays were performed, respectively. The anti‐D investigation was performed. Results DVI type 3 (65/253, 25.7%) and weak D type 15 (62/253, 24.5%) were common Chinese D variants, and RHD*960A, DFR, RHD*weak D type 25, 72, and 136 were frequent variant RHD alleles. Besides, twenty‐two sporadic and seven novel RHD alleles (RHD*188A; RHD*688C; RHD*782 T; RHD*1181C; RHD*165 T, 993A; RHD*148 + 3G > T and RHD*1227 + 5G > C) were identified. The deleterious effect of the novel RHD alleles on D antigen or mRNA expression was confirmed. Anti‐D was detected in two DVI type 3 pregnant women. Discussion The three‐step typing strategy provides an effective approach for Chinese D variant typing. It can be anticipated that commercially available RHD genotyping kits have limitations for testing Chinese D variants, as some of the frequent variants are not interrogated.

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Section: Discussioncontrasting

confidence: 90%

Section: Discussionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 99%

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Molecular and serological analysis of the D variant in the Chinese population and identification of seven novel RHD alleles

et al. 2022

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“…When two heterozygous causative SNVs are in partial linkage disequilibrium, phased genotype data that identify the DNA strand placement of each genotype are needed to resolve ambiguity in interpreting the resulting phenotype. In addition, the RhD blood group could not be typed due to its complicated genetic underpinning 35 and the absence of several important variants in our dataset.…”

Section: Discussionmentioning

confidence: 99%

Genetic prediction of 33 blood group phenotypes using an existing genotype dataset

Moslemi,

Sækmose,

Larsen

et al. 2023

Transfusion

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BackgroundAccurate blood type data are essential for blood bank management, but due to costs, few of 43 blood group systems are routinely determined in Danish blood banks. However, a more comprehensive dataset of blood types is useful in scenarios such as rare blood type allocation. We aimed to investigate the viability and accuracy of predicting blood types by leveraging an existing dataset of imputed genotypes for two cohorts of approximately 90,000 each (Danish Blood Donor Study and Copenhagen Biobank) and present a more comprehensive overview of blood types for our Danish donor cohort.Study Design and MethodsBlood types were predicted from genome array data using known variant determinants. Prediction accuracy was confirmed by comparing with preexisting serological blood types. The Vel blood group was used to test the viability of using genetic prediction to narrow down the list of candidate donors with rare blood types.ResultsPredicted phenotypes showed a high balanced accuracy >99.5% in most cases: A, B, C/c, Coa/Cob, Doa/Dob, E/e, Jka/Jkb, Kna/Knb, Kpa/Kpb, M/N, S/s, Sda, Se, and Yta/Ytb, while some performed slightly worse: Fya/Fyb, K/k, Lua/Lub, and Vel ~99%–98% and CW and P1 ~96%. Genetic prediction identified 70 potential Vel negatives in our cohort, 64 of whom were confirmed correct using polymerase chain reaction (negative predictive value: 91.5%).DiscussionHigh genetic prediction accuracy in most blood groups demonstrated the viability of generating blood types using preexisting genotype data at no cost and successfully narrowed the pool of potential individuals with the rare Vel‐negative phenotype from 180,000 to 70.

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“…However, some of these D variants may not be distinguished using serological typing methods and very weak antigen expression as caused by the rarer DEL alleles may even escape detection by standard typing. Therefore, the unambiguous identification of Rh blood group variants often requires the use of molecular methods [13,14,20,21].…”

Section: Introductionmentioning

confidence: 99%

Characterization of Novel RHD Allele Variants and Their Implications for Routine Blood Group Diagnostics

Matzhold,

Bemelmans,

Polin

et al. 2024

Biomedicines

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The Rh system, including the highly immunogenic D antigen, is one of the clinically most important blood group systems in transfusion medicine. Numerous alleles of the RHD gene are associated with variant RhD phenotypes. In case of Rh incompatibility, some of them can induce hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. Thus, accurate blood group diagnostics are critical for safe transfusion therapy. We characterized phenotypes of four individuals revealing weakened D expression during routine pre-transfusion testing. Standard gel card matrix techniques with monoclonal and polyclonal anti-D antibodies were used for serological typing, complemented using D epitope and antigen density analysis. Genotyping employing PCR with sequence-specific primers, genomic and allele-specific Sanger sequencing and in silico protein analysis were performed. Four novel RHD alleles associated with weak D or partial D phenotypes were identified. One of the mutations is predicted to disrupt the terminal stop codon and result in an elongated translation of the mutant D protein that phenotypically exhibits a loss of D epitopes. Furthermore, a hybrid gene formed with the homologue RHCE gene is described. The presented data enhances the understanding of the Rh system and may contribute to continued advances in blood group diagnostics.

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The Significance of RHD Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals

Cited by 8 publications

References 44 publications

Molecular and serological analysis of the D variant in the Chinese population and identification of seven novel RHD alleles

Molecular and serological analysis of the D variant in the Chinese population and identification of seven novel RHD alleles

Genetic prediction of 33 blood group phenotypes using an existing genotype dataset

Characterization of Novel RHD Allele Variants and Their Implications for Routine Blood Group Diagnostics

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