Novel RHAG allele encoding the Rh(null) phenotype in Brazil
Carine Prisco Arnoni1, Janaína Guilhem Muniz1, Diana Gazito1
1Colsan-Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil.
Transfusion
|July 16, 2015
Summary
Rhnull is a rare blood group phenotype. Researchers identified a new RHAG gene mutation in a Brazilian woman causing Rhnull by creating a premature stop codon.
Area of Science:
- Genetics
- Hematology
- Immunology
Background:
- Rhnull is a rare blood group phenotype characterized by absent Rh antigen expression.
- The Rh system is crucial for blood transfusion compatibility and pregnancy.
- Various molecular mechanisms can underlie the Rhnull phenotype.
Purpose of the Study:
- To report a novel genetic cause of the Rhnull phenotype.
- To characterize the molecular basis of Rhnull in a Brazilian pregnant woman.
Main Methods:
- Genetic sequencing of the RHAG gene.
- Analysis of mutation effects on protein expression.
Main Results:
- A novel mutation (c.310C>T) in exon 2 of the RHAG gene was identified.
- This mutation results in a premature stop codon (Gln104Stop).
- The identified mutation is associated with the Rhnull phenotype in the studied individual.
Conclusions:
- A new molecular background for the Rhnull phenotype has been identified.
- This finding expands the known genetic variations leading to Rhnull.
- Understanding these variations is vital for transfusion management and genetic counseling.
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