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...

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.

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.

The reason for this interest is that RHAG, a gene located on chromosome 6 (6p11–p21), shares an identical exon structure and major regions of sequence identity with RHD / RHCE. Moreover, RhAG is essential for the expression of the Rh polypeptides and was identified in 2008 as the latest blood group system, no. 30, in its own right 7.

The Rh (Rhesus) protein family comprises Rh50 glycoprotein and Rh30 polypeptides, which form a complex essential for Rh antigen expression and erythrocyte membrane integrity. This article describes the structural organization of Rh50 gene and identification of its associated splicing defect causing Rhnulldisease.

2017年11月16日 · Using a combination of quantitative PCR and long-range PCR, we examined three distinct deletions affecting parts of the RHD gene in three blood donors. Their RHD nucleotide sequences and exact...

The genes of the human Rh family are located on three chromosomes (Fig. 6a); they share synteny with mouse homologs in both exon–intron structure and the linkage map that characterize the subgroups [11, 43].

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 …

2023年10月16日 · The Rh blood group system consists of RHD and RHCE gene. Both genes have 10 exons and share an overall 93.8% gene sequence identity (Okuda et al. 2000) but positioned in opposite orientation on chromosome 1p34-p36 (Wagner et al. 2005a). The RHD gene encodes the RhD protein, carrying the D antigen (RH1).

In this study, a new RHD variant, DAR, and a new RHCE variant, c eAR, are described in 4 Dutch African Blacks. Serologically, DAR showed weaker reactions with a monoclonal antibody and polyclonal antiserum against D. The DAR phenotype was characterized by complete loss of at least 9 of 37 Rh D epitopes.