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Novel RHAG allele encoding the Rh null phenotype in Brazil
Author(s) -
Ari Carine Prisco,
Muniz Janaína Guilhem,
Gazito Diana,
Person Rosangela de Medeiros,
Vendrame Tatiane Aparecida de Paula,
Castilho Lilian,
Latini Flavia Roche Moreira
Publication year - 2015
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.13219
Subject(s) - phenotype , allele , genetics , null allele , biology , reversion , microbiology and biotechnology , gene
Rh null 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 Rh null phenotype due to a change in RHAG exon2 c.310C>T, which leads to a premature stop codon (Gln104Stop).