2018年6月29日 · Clinically relevant exon 4–7 hybrid alleles (RHD*D-CE (4-7)-D) and exon 9 hybrid alleles (RHCE*CE-D (9)-CE) were prevalent in African Americans. This study shows custom NGS methods can...

2024年6月25日 · Complex gene rearrangement events that resulted in unexpressed RhCE protein were identified in a D-- family, despite intact RHCE gene exons. By integration of multiple technologies, previously unrecognized complexity in both common and uncommon RH hybrid structures were uncovered.

2025年2月6日 · RHAG exon sequencing of the son revealed a heterozygous frameshift mutation, which was consistent with the findings observed in the proband. A novel mutation, specifically c.732delC, was identified in RHAG. The RH null phenotype observed in this subject was attributed to a homozygous frameshift mutation in this gene.

WES can be applied for precise RH genotyping, detection of new or uncommon variants, and determination of RHD zygosity. An altered RH genotype is a risk factor for Rh alloimmunization in patients with sickle cell anemia. RH genes are highly polymorphic and encode the most complex of the 35 human blood group systems.

2000年1月1日 · We have identified an RHD pseudogene (RHD ψ) in Rh D-negative Africans. RHD ψ contains a 37 base pair (bp) insert in exon 4, which may introduce a stop codon at position 210. The insert is a sequence duplication across the boundary of intron 3 and exon 4. RHD ψ contains another stop codon in exon 6.

2024年6月11日 · RH genotype matching can potentially mitigate Rh alloimmunization but comprehensive and accessible genotyping methods are needed. We developed RHtyper as an automated algorithm to predict RH genotypes using whole …

Samples exon 10 and 7 positive were submitted to amplification of exon 5, confirming the pseudogene RHDΨ, whereas exon 10+exon 7--for the hybrid gene (C) cdes and mutation C733G (Leu245Val) of the RHCE gene. Results: Twenty-five (12.3%) samples were positive, 14 amplified for both exons 10 and 7 while in 11 only for the exon 10. When extended ...

1997年6月15日 · In a recent article,1 Cheng-Han Huang compared RH hybrid genes from dCCee and DC W-phenotypes and claimed that two exon-exon junctions that we described in previous studies2 were misidentified. We have now resequenced the exon4/exon5 junction, and we do agree that the boundary needs be set to nucleotide positions 634/635 (nt +1 is the A residue ...

2017年8月3日 · WES can be applied for precise RH genotyping, detection of new or uncommon variants, and determination of RHD zygosity. An altered RH genotype is a risk factor for Rh alloimmunization in patients with sickle cell anemia. RH genes are highly polymorphic and encode the most complex of the 35 human blood group systems.

Rh antigens can provoke severe alloimmune reactions, particularly in high-risk transfusion contexts such as, sickle cell disease. Rh antigens are encoded by the paralogs, RHD and RHCE, located in one of the most complex genetic loci. Our goal was to ...