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KMID : 0387720190300020168
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Korean Journal of Blood Transfusion
2019 Volume.30 No. 2 p.168 ~ p.173
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Case of D-Variant from a Frameshift Mutation RHD 711delC
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Ma Tae-O
Yu Hong-Bi
Jeon Su-Hak
Cho Duck
Chun Se-Jong
Shin Myung-Geun
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Abstract
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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.
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KEYWORD
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RhD, RHD, RhCE, RHCE, Genotype, Sequencing, Frameshift, D-negative
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