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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Institute of Blood Transfusion of Chinese Academy of Medical Sciences
2024-12-01
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| Series: | Zhongguo shuxue zazhi |
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| Online Access: | https://www.cjbt.cn/thesisDetails#10.13303/j.cjbt.issn.1004-549x.2024.12.014&lang=en |
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| _version_ | 1841557851533737984 |
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| author | ZHANG Xu LI Xiaofeng LI Jianping |
| author_facet | ZHANG Xu LI Xiaofeng LI Jianping |
| author_sort | ZHANG Xu |
| collection | DOAJ |
| description | [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. |
| format | Article |
| id | doaj-art-8a09d9c2a42e4154b7f64cfa97670441 |
| institution | Kabale University |
| issn | 1004-549X |
| language | zho |
| publishDate | 2024-12-01 |
| publisher | Institute of Blood Transfusion of Chinese Academy of Medical Sciences |
| record_format | Article |
| series | Zhongguo shuxue zazhi |
| spelling | doaj-art-8a09d9c2a42e4154b7f64cfa976704412025-01-06T09:43:02ZzhoInstitute of Blood Transfusion of Chinese Academy of Medical SciencesZhongguo shuxue zazhi1004-549X2024-12-0137121422142610.13303/j.cjbt.issn.1004-549x.2024.12.0141004-549X(2024)12-1422-05Genetic analysis of a serologically weak D phenotype caused by the p. R191G variant of the RHAG geneZHANG Xu0LI Xiaofeng1LI Jianping2Institute of Transfusion Medicine, Shenyang Central Blood Station (Liaoning Blood Center), Shenyang 110044, ChinaInstitute of Transfusion Medicine, Shenyang Central Blood Station (Liaoning Blood Center), Shenyang 110044, ChinaInstitute of Transfusion Medicine, Shenyang Central Blood Station (Liaoning Blood Center), Shenyang 110044, China[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.https://www.cjbt.cn/thesisDetails#10.13303/j.cjbt.issn.1004-549x.2024.12.014&lang=enserologically weak d phenotyperhd generhag genebioinformatics analysis |
| spellingShingle | ZHANG Xu LI Xiaofeng LI Jianping Genetic analysis of a serologically weak D phenotype caused by the p. R191G variant of the RHAG gene Zhongguo shuxue zazhi serologically weak d phenotype rhd gene rhag gene bioinformatics analysis |
| title | Genetic analysis of a serologically weak D phenotype caused by the p. R191G variant of the RHAG gene |
| title_full | Genetic analysis of a serologically weak D phenotype caused by the p. R191G variant of the RHAG gene |
| title_fullStr | Genetic analysis of a serologically weak D phenotype caused by the p. R191G variant of the RHAG gene |
| title_full_unstemmed | Genetic analysis of a serologically weak D phenotype caused by the p. R191G variant of the RHAG gene |
| title_short | Genetic analysis of a serologically weak D phenotype caused by the p. R191G variant of the RHAG gene |
| title_sort | genetic analysis of a serologically weak d phenotype caused by the p r191g variant of the rhag gene |
| topic | serologically weak d phenotype rhd gene rhag gene bioinformatics analysis |
| url | https://www.cjbt.cn/thesisDetails#10.13303/j.cjbt.issn.1004-549x.2024.12.014&lang=en |
| work_keys_str_mv | AT zhangxu geneticanalysisofaserologicallyweakdphenotypecausedbythepr191gvariantoftherhaggene AT lixiaofeng geneticanalysisofaserologicallyweakdphenotypecausedbythepr191gvariantoftherhaggene AT lijianping geneticanalysisofaserologicallyweakdphenotypecausedbythepr191gvariantoftherhaggene |