The synonymous nucleotide substitution RHD 1056C>G alters mRNA splicing associated with serologically weak D phenotype.

ABSTRACT:

Background

D antigen is one of the most clinically significant blood group antigens. Variation of the RHD gene can cause weak D or partial D phenotypes. While most variations are missense substitutions with amino acid changes, those without are called "silent" or "synonymous" substitutions. Synonymous substitutions often have little effect on the protein, not altering the phenotype. However, effect on splicing can affect end-product protein. We report a new synonymous variation, RHD 1056C>G, that resulted in weak D phenotype, and predicted its effect with various in silico methods.

Methods

Serologic testing of the D antigen with full sequencing of the RHD gene was done. Human Splice Finder was used to predict the effect of this variation, and validation of this method was do

SUBMITTER: Chun S 

PROVIDER: S-EPMC6817278 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature