틀이동변이 RHD 711delC에 의한 D-변이형 증례 1건
Case of D-Variant from a Frameshift Mutation RHD 711delC
마태오, 유홍비, 전수학, 조덕, 천세종, 신명근,
소속 상세정보
마태오 ( Ma Tae-O )
전남대학교 의과대학 진단검사의학교실
유홍비 ( Yu Hong-Bi )
성균관대학교 삼성융합의과학원 융합의과학과
전수학 ( Jeon Su-Hak )
전남대학교 의과대학 진단검사의학교실
조덕 ( Cho Duck )
성균관대학교 의과대학 삼성서울병원 진단검사의학과
천세종 ( Chun Se-Jong )
전남대학교 의과대학 진단검사의학교실
신명근 ( Shin Myung-Geun )
전남대학교 의과대학 진단검사의학교실
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.
키워드
RhD; RHD; RhCE; RHCE; Genotype; Sequencing; Frameshift; D-negative
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