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 phe-notype sample were identified through direct sequencing. Bioinformatics software was used to analyze the structure of the va-riant 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 sequen-cing. 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 a-mino 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.
serologically weak D phenotypeRHD geneRHAG genebioinformatics analysis
万方数据
维普
