rhd711delc移码突变的d -变体一例

Taeo Ma, HongBi Yu, Suhak Jeon, D. Cho, S. Chun, M. Shin
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引用次数: 4

摘要

D抗原具有临床意义,对D抗原的常规检测需要包括弱D检测,这是使用间接抗人免疫球蛋白方法进行的。另一方面,RHD基因分型可以更精确地对个体的D型进行准确分型,这在RHD基因完整的情况下是一个有用的工具。大多数弱d或部分d病例来自RHD和RHCE基因的单核苷酸改变或杂交。然而,移码突变也可能导致弱或部分d。移码突变的典型特征是在有问题的突变和转录的早期终止后蛋白质产物发生变化,导致蛋白质产物截短。本文报告1例d型RHD 711delC病例,并对相关文献进行复习。此外,还报告了软件分析的结果。(韩国输血杂志2019;30:168-173)
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Case of D-Variant from a Frameshift MutationRHD711delC
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)
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