Genetic analysis of a serologically weak D phenotype caused by the p. R191G variant of the RHAG gene
[Objective] To analyze the molecular mechanism of a serologically weak D phenotype caused by RHAG gene variation. [Methods] The full coding and flanking regions of RHD, RHCE and RHAG genes of the serologically weak D phenotype sample were identified through direct sequencing. Bioinformatics software...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | zho |
| Published: |
Institute of Blood Transfusion of Chinese Academy of Medical Sciences
2024-12-01
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| Series: | Zhongguo shuxue zazhi |
| Subjects: | |
| Online Access: | https://www.cjbt.cn/thesisDetails#10.13303/j.cjbt.issn.1004-549x.2024.12.014&lang=en |
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| Summary: | [Objective] To analyze the molecular mechanism of a serologically weak D phenotype caused by RHAG gene variation. [Methods] The full coding and flanking regions of RHD, RHCE and RHAG genes of the serologically weak D phenotype sample were identified through direct sequencing. Bioinformatics software was used to analyze the structure of the variant protein. [Results] The serological test results were weak D and normal Rh Ccee phenotypes. Normal sequence of RHD and RHCE genes, and a homozygous variation c. 572G>A (p. R191Q) of the RHAG gene were revealed by direct sequencing. The c. 572G>A (p. R191Q) mutation was predicted to be “probably damaging”, “deleterious” and “affected” by PolyPhen2, PROVEAN and Mutation Taster algorithms, respectively. The free energy change (△△G) value predicted it to have a destabilizing effect on the RhAG protein. Meanwhile, modeling of the 3D structure predicted that the p. R191Q amino acid substitution may alter the space conformation of the RhAG protein. [Conclusion] A homozygous variation of RHAG gene p. R191Q leads to serologically weak D expression, but does not affect RhCE antigen expression. |
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| ISSN: | 1004-549X |