A novel silent<i>RHCE</i>allele in Chinese population

Zhao, Fengyong; Li, Q; Zhang, D M; Guo, Zhonghui; Wu, Ying; Wang, F; Zhang, J M; Qian, Min; Zhu, Ziyan

doi:10.1111/tme.12624

Cited by 4 publications

(4 citation statements)

References 11 publications

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“… 11 , 13 Single-nucleotide point mutations, such as RHCE∗Ce(c.1059G>A) and RHCE∗Ce(IVS3+5G>A) , are also associated with the D-- phenotype. 5 , 15 Other mechanisms have also been reported, including single-nucleotide insertions ( RHCE∗Ce87_93insT ) 10 and nucleotide deletions ( RHCE∗cE907delC ). 14 To date, the main molecular bases of D-- have been attributed to RHCE gene inactivation caused by gene rearrangement or loss-of-function mutations in the coding regions or splice sites.…”

Section: Discussionmentioning

confidence: 99%

“…Case reports of the D-- phenotype have been published for various ethnic groups. 5 , 6 , 7 , 8 The common mechanism of the D-- phenotype is genomic rearrangements between the closely linked homologous genes RHD and RHCE , resulting in RHCE∗CE-D-CE hybrid alleles. 9 , 10 , 11 , 12 , 13 Other identified molecular mechanisms responsible for the D-- phenotype include single-nucleotide deletions 10 , 14 and altered RNA splicing sites.…”

Section: Introductionmentioning

confidence: 99%

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Integrated analyses reveal unexpected complex inversion and recombination in RH genes

Li,

Wang,

et al. 2024

Blood Advances

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Phenotype D-- is associated with severe hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. It is typically caused by defective RHCE genes. In this study, we identified a D-- phenotype proband and verified RH phenotypes of other six family members. However, inconsistent results between the phenotypic analysis and Sanger sequencing revealed intact RHCE exons with no mutations in the D-- proband, but the protein was not expressed. Subsequent Oxford Nanopore Technologies whole-genome sequencing of the proband revealed an inversion with ambiguous breakpoints in the intron 2 and intron 7 and copy number variation loss in the RHCE gene region. Given that the RHCE gene is highly homologous to the RHD gene, we conducted a comprehensive analysis using Pacific Biosciences long-read target sequencing, Bionano optical genome mapping, and targeted next-generation sequencing. Our findings revealed that the proband had two novel recombinant RHCE haplotypes, RHCE*Ce(1-2)-D(3-10) and RHCE*Ce(1-2)-D(3-10)-Ce(10-8)-Ce(3-10), with clear-cut breakpoints identified. Furthermore, the RH haplotypes of the family members were identified and verified. In summary, we made a novel discovery of hereditary large inversion and recombination events occurring between the RHD and RHCE genes, leading to lack of RhCE expression. This highlights the advantages of using integrated genetic analyses and also provides new insights into RH genotyping.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Integrated analyses reveal unexpected complex inversion and recombination in RH genes

Li,

Wang,

et al. 2024

Blood Advances

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“…The frequent RHCE*ce308T variant allele has been identified in the Chinese D negative individuals to resulting in a weak C but c negative phenotype 24 . The rare silent RHCE*cE1059A allele has been reported to resulting in negative expression of c and E antigens in one family, 25 and this mutation was also identified in a Chinese donor with weak c and Ccee phenotype 19 . Besides, the rare RHCE*CE762C allele was identified in one Chinese proband with weak E phenotype 26…”

Section: Discussionmentioning

confidence: 99%

Serological screening and genetic analysis ofRhCEvariants in the Chinese Southern Han donors

Jia

Chen

Wen

et al. 2021

Transfusion Medicine

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Objectives To screen RhCE variants in the Chinese Southern Han donors for molecular genetic analysis. Background More than hundreds of RhCE variant alleles have been described to resulting in weak and/or partial expression of RhCE antigens, generation of low‐prevalence antigens and/or absence of a high‐prevalence antigen of Rh system, which mainly reported in the people of African origin. In this study, the serological screening and molecular genetic analysis of RhCE variants were performed in the Chinese Southern Han donors. Methods The blood samples of E(+) donors were preliminarily collected. Then, RhCE antigens of the E(+) samples were further typed by using two sets of monoclonal anti‐C, anti‐c, anti‐e and another anti‐E. When weak expression of RhCE antigens was found, direct sequencing for 10 exons of RHCE gene, RH genotyping analysis by using multiplex ligation–dependent probe amplification, flow cytometric analysis and even cDNA sequencing were performed. Results A total of 4487 E(+) samples were collected and four samples with weak expression of antigens were detected. RHCE*Ce375G and RHCE*Ce667T variant alleles were identified in two samples with weak expression of e antigen, respectively. But no variant alleles were found in another two samples with weak expression of C antigen. Conclusion The variant RHCE*Ce375G validated by mRNA sequencing and the deduced RHCE*Ce667T alleles were firstly identified in the Chinese population. The DCE haplotype might account for the weak expression of C antigen in two donors.

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“…Following PCR amplification, the products were sent to BGI Tech Solutions for sequencing, using the sequencing primers 5 0 -CTTGATAGGATGCCAC-GAGCC-3 0 (for RHD) and 5 0 -TAGAATAATTGCCACATTTACTGAG-3 0 (for RHCE). 14…”

Section: Sequencing Of Rhce Exon 2 and Rhd Exonmentioning

confidence: 99%

Accuracy of RHC/c genotyping in Chinese Han population

Zhou,

Liu,

Shao

et al. 2024

Transfusion Medicine

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Background and ObjectivesThe RHCE gene plays an important role in the complex and polymorphic Rh blood group system. RHCE genotyping holds significant clinical and transfusion‐related implications. The objective of this study was to evaluate the accuracy of RHC/c genotyping in the Chinese Han population.Materials and MethodsBlood samples were obtained from 653 Chinese Han blood donors. The serological RhD and RhCcEe types were determined using monoclonal antibodies. Subsequently, multiplex real‐time polymerase chain reaction (PCR) analysis was performed for RHC and RHc genotyping. Additionally, exon 2 of RHCE and exon 1 of RHD were sequenced.ResultsThe analysis in this study found 443 RhD‐positive donors and 210 RhD‐negative donors. Among the 653 total donors, discrepancies between the RHC genotyping results and the serological results were found in 37 individuals. Specifically, 6 false‐positive RhC results in RhD‐positive donors and 28 false‐positive RhC results in RhD‐negative donors were identified based on c.48C in RHCE exon 1. Additionally, 3 false‐negative RhC results were observed in the RhD‐positive donors due to a 109 bp insertion in RHCE intron 2. RHc typing demonstrated complete consistency between the real‐time PCR and the serological results.ConclusionIn the Chinese Han population, RHC genotyping was reliable when consistent results were achieved by both c.48C‐based and 109 bp insertion‐based genotyping. Moreover, RHc genotyping based on c.203A and c.307C polymorphic loci demonstrated dependable performance.

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A novel silentRHCEallele in Chinese population

Cited by 4 publications

References 11 publications

Integrated analyses reveal unexpected complex inversion and recombination in RH genes

Integrated analyses reveal unexpected complex inversion and recombination in RH genes

Serological screening and genetic analysis ofRhCEvariants in the Chinese Southern Han donors

Accuracy of RHC/c genotyping in Chinese Han population

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