An effective diagnostic strategy for accurate detection of RhD variants including Asian DEL type in apparently RhD-negative blood donors in Korea

Autor:	Kyoung Un Park, Jun Nyun Kim, S. A. Lee, Jeong Ran Kwon, Duck Cho, Sejong Chun, M. H. Seo, A. H. Lim, Sang-Ki Kim, Yun Ji Hong, Young Sill Choi, Eun Jeong Won
Rok vydání:	2016
Předmět:	Genotype Blood Donors 030204 cardiovascular system & hematology Biology Real-Time Polymerase Chain Reaction Sensitivity and Specificity 03 medical and health sciences Exon 0302 clinical medicine Asian People Gene Frequency Republic of Korea Humans Genotyping Gene Sequence Deletion Polymorphism Genetic Rh-Hr Blood-Group System Intron Hematology General Medicine Sequence Analysis DNA Diagnostic strategy Phenotype Molecular biology Private organization RhD negative 030215 immunology
Zdroj:	Vox sanguinis. 111(4)
ISSN:	1423-0410
Popis:	Background and Objectives The purpose of this study was to provide an effective RHD genotyping strategy for the East Asian blood donors. Material and Methods RhD phenotyping, weak D testing and RhCE phenotyping were performed on 110 samples from members of the RhD-negative club, private organization composed of RhD-negative blood donors, in the GwangJu-Chonnam region of Korea. The RHD promoter, intron 4, and exons 7 and 10 were analysed by real-time PCR. Two nucleotide changes (c.1227 G>A, and c.1222 T>C) in exon 9 were analysed by sequencing. Results Of 110 RhD-negative club members, 79 (71·8%) showed complete deletion of the RHD gene, 10 (9·1%) showed results consistent with RHD-CE-D hybrid, and 21 (19·1%) showed amplification of RHD promoter, intron 4, and exons 7 and 10. Of the latter group, 16 (14·5%) were in the DEL blood group including c.1227 G>A (N = 14) and c.1222 T>C (N = 2), 2 (1·8%) were weak D, 1(0·9%) was partial D, and 2 (1·8%) were undetermined. The RhD-negative phenotype samples consisted of 58 C-E-c+e+, 19 C-E+c+e+, 3 C-E+c+e-, 21 C+E-c+e-, 6 C+E-c+e+ and 3 C+E-c-e + . Notably, all 58 samples with the C-E-c+e+ phenotype were revealed to have complete deletion of the RHD gene. The C-E-c+e+ phenotype showed 100% positive predictive value for detecting D-negative cases. Conclusions RHD genotyping is not required in half of D-negative cases. We suggest here an effective RHD genotyping strategy for accurate detection of RhD variants in apparently RhD-negative blood donors in East Asia.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62c4874416a612470199fba8a05080a3 https://pubmed.ncbi.nlm.nih.gov/27864976 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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