Novel RHAG allele encoding the Rh(null) phenotype in Brazil.

Transfusion. 2015 Oct;55(10):2521-2. doi:10.1111/trf.13219. Epub 2015 Jul 14

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摘要

Rhnull is a rare phenotype characterized by the loss of Rh antigen expression. This phenotype can be related to several molecular backgrounds. In this study, we show a novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.310C>T, which leads to a premature stop codon (Gln104Stop).

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Novel RHAG allele encoding the Rh(null) phenotype in Brazil.

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