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Chinese Journal of Medical Genetics ; (6): 261-264, 2018.
Artigo em Chinês | WPRIM | ID: wpr-687964

RESUMO

<p><b>OBJECTIVE</b>To study a case with weak D59 phenotype identified among ethnic Han Chinese population.</p><p><b>METHODS</b>Routine serological tests were used to analyze the reaction patterns, and the RhD epitopes were verified with 12 monoclonal antibodies. Sequence-specific primer PCR was applied for typing the weak RhD and RhD zygosity in the proband and his family members.</p><p><b>RESULTS</b>A c.1148T>C variant was identified in the proband, for which serological test indicated a weak D phenotype. RHD zygosity testing confirmed that the proband had a RHD+ /RHD- genotype.</p><p><b>CONCLUSION</b>A weak D59 phenotype was firstly identified in a Chinese individual.</p>


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Povo Asiático , Genética , China , Etnologia , Fenótipo , Sistema do Grupo Sanguíneo Rh-Hr , Genética
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