Loading...
2019
틀이동변이 RHD 711delC에 의한 D-변이형 증례 1건
Case of D-Variant from a Frameshift Mutation RHD 711delC
대한수혈학회
신명근 외 1명
논문정보
- Publisher
- 대한수혈학회지
- Issue Date
- 2019-08-31
- Keywords
- -
- Citation
- -
- Source
- -
- Journal Title
- -
- Volume
- 30
- Number
- 2
- Start Page
- 168
- End Page
- 173
- DOI
- ISSN
- 12269336
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. (Korean J Blood Transfus 2019;30:168-173)
- 전남대학교
- KCI
- 대한수혈학회지
저자 정보
| 이름 | 소속 |
|---|---|
| 신명근 | 의학과 |