Prenatal determination of fetal RhD type

Carritt, B.; Steers, F; Avent, Neil D.

doi:10.1016/s0140-6736(94)92814-2

Cited by 30 publications

(18 citation statements)

References 4 publications

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“…While Carrits et al [16]distinguished between two classes of RhD-negative individuals by molecular study, namely classically RHD-negative with total RHD gene deletion, and those with a grossly intact RHD gene and the D el phenotype, in this report we further observed a class of genuinelly RhD-negative individuals with partial preservation of the RHD gene at the 3′ noncoding region of exon 10 in 4.3% of RhD-negative individuals. Thus, three classes of RhD-negative polymorphisms are present among Chinese in Taiwan, namely D el with a grossly intact RHD gene at exons 4, 5, 7, and 10, and weak RhD antigen expression on the red cells (32.6%, class 1) genuinelly RhD-negative with deletion of the RHD gene at exons 4, 5, 7, and preservation of the 3′ noncoding region of RHD gene at exon 10 (4.3%, class 2), and genuinely RhD-negative with total deletion of the RHD gene (63.0%, class 3).…”

Section: Discussionmentioning

confidence: 40%

“…Exceptions with partial RHD gene deletions or no deletions have occasionally been reported in RhD-negative individuals [12, 13, 14, 15]. Carrits et al [16]distinguished between two classes of RhD-negative individuals within some oriental populations: those with total deletion of the RHD gene and total absence of the D antigen, and those with a grossly intact RHD gene and a very low level of antigen detectable only by specialized elution assays. In Daniels’ textbook [13]it was mentioned that Steers et al detected exons 2 and 5 of the RHD gene in genomic DNA from Japanese D el samples.…”

Section: Introductionmentioning

confidence: 99%

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RHD Gene Polymorphisms among RhD-Negative Chinese in Taiwan

Sun¹,

Chou²,

Lai³

et al. 1998

Vox Sanguinis

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Background and Objective: The rare occurrence of anti-D-associated hemolytic disease of the newborn among Chinese is attributable in part to the existence of the weak D phenotype D_el among apparently RhD-negative individuals. While exciting advances in the molecular genetics of the Rh blood group have been noted in recent years, the genomic structure of the D_el phenotype has seldom been studied in the literature. We try to explore the genomic structure of the RhD gene among apparently Rh-negative Chinese in Taiwan in this study. Methods: Genomic DNA from 230 samples of apparently RhD-negative Chinese was studied using four polymerase chain reaction (PCR)-based RhD typing methods. These PCR methods amplified RHD and RHCE genes at exons 4, 5, 7 and 10. All nucleotides responsible for exofacial amino acid differences between RhD and RhCeEe peptides, including amino acids 169, 170, 172, 223, 226, 233, 238, 350, 353, and 354, were contained in these amplified DNA segments. Southern blot analysis using RHD cDNA fragments as probes was performed. Results: According to the serological study, 155 samples (67.4%) were genuinely RhD-negative and 75 samples (32.6%) were of the D_el phenotype. Successful amplifications for RHD sequences were possible in all 75 D_el samples using four PCR methods. Apparently, all D_el individuals carried an intact RHD gene. While 145 individuals of 155 genuinely Rh-negative (63.0% of apparently RhD-negative individuals) had total deletion of their RHD genes, 10 individuals (4.3% of apparently RhD-negative individuals) were shown to have a preserved 3′ noncoding region of the RHD exon 10 and a gross deletion of RHD exons 4–10. Conclusions: Three classes of RhD-negative polymorphisms among Chinese in Taiwan were observed. These included D_el with grossly intact RHD and weak RhD expression, genuinely RhD-negative with partial preservation of the RHD gene, and genuinely RhD-negative with total deletion of the RHD gene. A molecular study is warranted to clarify the mechanism responsible for the weak RHD gene expression in D_el individuals.

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Section: Discussionmentioning

confidence: 40%

Section: Introductionmentioning

confidence: 99%

RHD Gene Polymorphisms among RhD-Negative Chinese in Taiwan

Sun¹,

Chou²,

Lai³

et al. 1998

Vox Sanguinis

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“…This model predicted that the RHD gene should encode the RhD protein and the RHCE gene should encode both C/c and E/E proteins, most likely following alternative splicing of a primary transcript (Le Van Kim et al 1992a). Although this general model remains valid, recent findings add further to the genetic complexity of the RH system and indicate that some rare RhD-negative phenotypes (among ddCCee and dCce s complexes) in Australian and Black populations may have arisen from partial deletions, rearrangements, or nonsense mutations of the RHD gene (Hyland et al 1994;Carritt et al 1994). This may also explain the presence of an RhD transcript in Japanese individuals typed as RhD-negative (Kajii et al 1993;Umenishi et al 1994).…”

Section: Introductionmentioning

confidence: 98%

Structural analysis of the RH-like blood group gene products in nonhuman primates

Salvignol

Calvas²,

Socha

et al. 1995

Immunogenetics

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Rh-related transcripts present in bone marrow samples from several species of nonhuman primates (chimpanzee, gorilla, gibbon, crab-eating macaque) have been amplified by RT-polymerase chain reaction using primers deduced from the sequence of human RH genes. Nucleotide sequence analysis of the nonhuman transcripts revealed a high degree of similarity to human blood group Rh sequences, suggesting a great conservation of the RH genes throughout evolution. Full-length transcripts, potentially encoding 417 amino acid long proteins homologous to Rh polypeptides, were characterized, as well as mRNA isoforms which harbored nucleotide deletions or insertions and potentially encode truncated proteins. Proteins of 30-40,000 M(r), immunologically related to human Rh proteins, were detected by western blot analysis with antipeptide antibodies, indicating that Rh-like transcripts are translated into membrane proteins. Comparison of human and nonhuman protein sequences was pivotal in clarifying the molecular basis of the blood group C/c polymorphism, showing that only the Pro103Ser substitution was correlated with C/c polymorphism. In addition, it was shown that a proline residue at position 102 was critical in the expression of C and c epitopes, most likely by providing an appropriate conformation of Rh polypeptides. From these data a phylogenetic reconstruction of the RH locus evolution has been calculated from which an unrooted phylogenetic tree could be proposed, indicating that African ape Rh-like genes would be closer to the human RhD gene than to the human RhCE gene.

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“…However, in a recent study it was noted that some RhD-negative individuals contain portions of the RHD gene (Aubin et al, 1997;Carritt et al, 1994;Hyland et al, 1994b). Conversely, some RhD-positive variants (e.g.…”

Section: Introductionmentioning

confidence: 99%