A null allele caused by a four‐base‐pair duplication within the <i>RHCE</i> gene encoding a D– – phenotype

Chen, Qing; Xiao, Jianyu; Zhang, Min; Huang, Cheng-Yin; Li, Min; Flegel, Willy A.; Zhou, Xiaoyu

doi:10.1111/trf.16211

Cited by 2 publications

(3 citation statements)

References 5 publications

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“…1 Nonsense mutations, hybrid CE-D-CE alleles, deletions, or insertions can cause RHCE null alleles that, in homozygosity or compound heterozygosity, underlie the DÀÀ phenotype. 1,2…”

Section: Brief Backgroundmentioning

confidence: 99%

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RHCE null allele causing D‐‐ phenotype in a Latin‐American blood donor

Dezan

Aranda²,

Butron³

et al. 2022

Transfusion

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“…1 Nonsense mutations, hybrid CE-D-CE alleles, deletions, or insertions can cause RHCE null alleles that, in homozygosity or compound heterozygosity, underlie the DÀÀ phenotype. 1,2…”

Section: Brief Backgroundmentioning

confidence: 99%

“…Individuals with this phenotype lack any expression of Cc/Ee antigens on RBC but usually exhibit enhanced D antigen expression 1 . Nonsense mutations, hybrid CE‐D‐CE alleles, deletions, or insertions can cause RHCE null alleles that, in homozygosity or compound heterozygosity, underlie the D−− phenotype 1,2 …”

Section: Brief Backgroundmentioning

confidence: 99%

RHCE null allele causing D‐‐ phenotype in a Latin‐American blood donor

Dezan

Aranda²,

Butron³

et al. 2022

Transfusion

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“…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%

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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A null allele caused by a four‐base‐pair duplication within the RHCE gene encoding a D– – phenotype

Cited by 2 publications

References 5 publications

RHCE null allele causing D‐‐ phenotype in a Latin‐American blood donor

RHCE null allele causing D‐‐ phenotype in a Latin‐American blood donor

Integrated analyses reveal unexpected complex inversion and recombination in RH genes

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