Korean J Blood Transfus.  2019 Aug;30(2):168-173. 10.17945/kjbt.2019.30.2.168.

Case of D-Variant from a Frameshift Mutation RHD 711delC

• Ma T
• Yu H
• Jeon S
• Cho D
• Chun S
• Shin MG

• KMID: 2457176
• DOI: http://doi.org/10.17945/kjbt.2019.30.2.168

Abstract

D antigens are clinically significant, and routine tests on the D antigen requires the inclusion of weak D testing, which is performed using indirect antihuman immunoglobulin methods. On the other hand, exact typing of the D type of an individual can be done more precisely with RHD genotyping, which is a useful tool in cases where the RHD gene is intact. The majority of weak-D or partial-D cases are from single nucleotide changes or hybridization of RHD and RHCE genes. Nevertheless, frameshift mutations can also result in weak or partial-D. The characteristics of a frameshift mutation is typically a change in protein product after a problematic mutation and early termination of transcription, leading into truncated protein products. This paper reports a D-variant case with RHD 711delC along with a review of the relevant literature. In addition, the results of software analysis are reported.

Keyword

RhD; RHD; RhCE; RHCE; Genotype; Sequencing; Frameshift; D-negative

MeSH Terms

Frameshift Mutation*
Genotype
Hand
Immunoglobulins
Immunoglobulins