Research Hub

대학 자원

대학 인프라와 자원을 공유해 공동 연구와 기술 활용을 지원합니다.

Loading...

논문 리스트

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)

저자 정보

이름 소속
신명근 의학과