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

Autor: Arnoni CP; Colsan-Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Muniz JG; Colsan-Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Gazito D; Colsan-Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Person Rde M; Colsan-Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Vendrame TA; Colsan-Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil., Castilho L; Hemocentro-Unicamp, Campinas, SP, Brazil., Latini FR; Colsan-Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil.
Jazyk: angličtina
Zdroj: Transfusion [Transfusion] 2015 Oct; Vol. 55 (10), pp. 2521-2. Date of Electronic Publication: 2015 Jul 14.
DOI: 10.1111/trf.13219
Abstrakt: 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).
(© 2015 AABB.)
Databáze: MEDLINE
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