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. 2019 Nov 27;17(1):393.
doi: 10.1186/s12967-019-02134-9.

Molecular and computational analysis of 45 samples with a serologic weak D phenotype detected among 132,479 blood donors in northeast China

Xu Zhang  1   2 , Guiji Li  3 , Zhuren Zhou  1   2 , Chaopeng Shao  4 , Xuying Huang  1   2 , Lichun Li  1   2 , Xiaofeng Li  1   2 , Ying Liu  5 , Hua Fan  6 , Jianping Li  7   8   9   10
Affiliations

V体育2025版 - Molecular and computational analysis of 45 samples with a serologic weak D phenotype detected among 132,479 blood donors in northeast China

Xu Zhang et al. J Transl Med. .

Abstract

Background: RH1 is one of the most clinically important blood group antigens in the field of transfusion and in the prevention of fetal incompatibility VSports手机版. The molecular analysis and characterization of serologic weak D phenotypes is essential to ensuring transfusion safety. .

Methods: Blood samples from a northeastern Chinese population were randomly screened for a serologic weak D phenotype. The nucleotide sequences of all 10 exons, adjacent flanking intronic regions, and partial 5' and 3' untranslated regions (UTRs) were detected for RHD genes V体育安卓版. Predicted deleterious structural changes in missense mutations of serologicl weak D phenotypes were analyzed using SIFT, PROVEAN and PolyPhen2 software. The protein structure of serologic weak D phenotypes was predicted using Swiss-PdbViewer 4. 0. 1. .

Results: A serologic weak D phenotype was found in 45 individuals (0. 03%) among 132,479 blood donors V体育ios版. Seventeen distinct RHD mutation alleles were detected, with 11 weak D, four partial D and two DEL alleles. Further analyses resulted in the identification of two novel alleles (RHD weak D 1102A and 399C). The prediction of a three-dimensional structure showed that the protein conformation was disrupted in 16 serologic weak D phenotypes. .

Conclusions: Two novel and 15 rare RHD alleles were identified. Weak D type 15, DVI Type 3, and RHD1227A were the most prevalent D variant alleles in a northeastern Chinese population VSports最新版本. Although the frequencies of the D variant alleles presented herein were low, their phenotypic and genotypic descriptions add to the repertoire of reported RHD alleles. Bioinformatics analysis on RhD protein can give us more interpretation of missense variants of RHD gene. .

Keywords: DEL; Molecular and computational analysis; Partial D; RHD variant; Serological weak D phenotype; Weak D. V体育平台登录.

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Conflict of interest statement

The authors declare that they have no competing interests.

V体育2025版 - Figures

Fig. 1
Fig. 1
Positions of single amino acid substitution of the RhD protein (adapted from Flegel [4] and Srivastava [45]). There are 417 amino acids in the RhD protein, shown here as circles. The mature protein in the cell membrane lacks the first amino acid. The nine exon boundaries in the RHD cDNA as reflected in the amino acid sequence are labeled as black bars. All detected amino acid substitutions encoding D variant alleles are labeled as colored circles. A synonymous single nucleotide polymorphism (SNP) caused no amino acid change (gray). The other SNPs are nonsynonymous and cause amino acid changes that are predicted to affect the RhD protein structure (red) or to be neutral (blue)
Fig. 2
Fig. 2
Comparison of the tertiary structure of modeled wild-type and mutant RhD proteins. RHD and D variant tertiary structures were modeled using Deep View-Swiss-Pdb Viewer 4.0.1. Helices are shown as deep pink and rose pink ribbons, sheets as yellow and orange, and coils as green. a1, b1, c1, and d1 are wild-type RhD protein. The weak D proteins of weak D type 31 (a2), weak D type 18 (a3), weak D type 61 (a4), weak D 101G (b2), weak D type 25 (b3), weak D 399C (b4), weak D type 54 (c2), weak D type 763C (c3) , weak D type15 (c4), weak D779G (d2), weak D 1102A (d3), and weak D type 72 (d4) compared with the left wild-type RhD proteins, respectively. The partial D proteins of DVI type 3 (e1), DVI type 4 (e2), D V type 2 (e3) and DFR type2 (e4) compared with the wild-type RhD protein (a1), respectively. The mutant weak D proteins (p.P6L, p.R7W, p.R10W, p.Y34C, p. R114Q, p.K133N, p.S122L, p.G255R, p.G280D, p.H260R, p.G368R and p.D404E) are highlighted
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References

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