Case of D-Variant from a Frameshift Mutation RHD 711delC
10.17945/kjbt.2019.30.2.168
- Author:
Taeo MA
1
;
Hongbi YU
;
Suhak JEON
;
Duck CHO
;
Sejong CHUN
;
Myung Geun SHIN
Author Information
1. Department of Laboratory Medicine, Chonnam National University Medical School & Hospital, Gwangju, Korea. sejongchun79@naver.com
- Publication Type:Case Report
- Keywords:
RhD;
RHD;
RhCE;
RHCE;
Genotype;
Sequencing;
Frameshift;
D-negative
- MeSH:
Frameshift Mutation;
Genotype;
Hand;
Immunoglobulins
- From:Korean Journal of Blood Transfusion
2019;30(2):168-173
- CountryRepublic of Korea
- Language:Korean
-
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.
