Sequence Analysis of cDNA Derived from Reticulocyte mRNAs Coding for Rh Polypeptides and Demonstration of E/e and C/c Polymorphisms

Şimşek, Suat; Ca, de Jong; Ht, Cuijpers; Bleeker, PM; Tm, Westers; Ma, Overbeeke; Goldschmeding, Roel; Ce, van der Schoot; Borne, von dem

doi:10.1111/j.1423-0410.1994.tb01661.x

Cited by 71 publications

(31 citation statements)

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“…RHC/c polymorphisms were first described by Mouro et al 1 and by Simsek et al 2 They both found a W at amino acid position 16 (G48) on the RHc allele derived from white donors. Also, in the white population in this study, RHc with G48 is the predominant genotype.…”

Section: Discussionmentioning

confidence: 98%

RHC and RHc genotyping in different ethnic groups

et al. 2002

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Section: Discussionmentioning

confidence: 98%

RHC and RHc genotyping in different ethnic groups

et al. 2002

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“…These amplified sequences included all the nucleotides responsible for the exofacial amino acid differences between the RhD and RhCcEe polypeptides, i.e. amino acids 169, 170, 172, 223, 226, 233, 238, 350, 353, and 354 [13, 21, 22, 23, 24, 25, 26](fig. 1).…”

Section: Methodsmentioning

confidence: 99%

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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“…8 The RhD protein carries the D antigens and the RhCE protein carries the C, c, E, and e antigens. [9][10][11][12][13] A wide genetic diversity exists in RHD and RHCE, resulting in more than 250 RHD and RHCE variant alleles. 14 These variant alleles have been classified into four groups: the partial RHD alleles, alleles encoding the weak D, and D-elution (D el ) phenotypes, the D-null alleles and the RHCE variant alleles, based on their phenotypic expression (see Web resources).…”

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confidence: 99%