title: An effective diagnostic strategy for accurate detection of RhD variants including Asian DEL type in apparently RhD-negative blood donors in Korea.
abstract: OBJECTIVE
  The purpose of this study was to provide an effective RHD genotyping strategy for the East Asian blood donors.
  
  
  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.
authors.affiliation: Department of Biomedical Sciences, Chonnam National University, Gwangju, Korea.
authors.forename: M H
authors.initials: MH
authors.lastname: Seo
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Hospital, Gwangju, Korea.
authors.forename: E J
authors.initials: EJ
authors.lastname: Won
authors.affiliation: Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
authors.forename: Y J
authors.identifier: http://orcid.org/0000-0002-8750-4257
authors.initials: YJ
authors.lastname: Hong
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunwan University School of Medicine, Seoul, Korea.
authors.forename: S
authors.initials: S
authors.lastname: Chun
authors.affiliation: The Division of Human Blood Safety Surveillance, Korea Centers for Disease Control and Prevention, Cheongwon, Korea.
authors.forename: J R
authors.initials: JR
authors.lastname: Kwon
authors.affiliation: The Division of Human Blood Safety Surveillance, Korea Centers for Disease Control and Prevention, Cheongwon, Korea.
authors.forename: Y S
authors.initials: YS
authors.lastname: Choi
authors.affiliation: The Division of Human Blood Safety Surveillance, Korea Centers for Disease Control and Prevention, Cheongwon, Korea.
authors.forename: J N
authors.initials: JN
authors.lastname: Kim
authors.affiliation: Blood Transfusion Research Institute, Korean Red Cross, Wonju, Korea.
authors.forename: S A
authors.initials: SA
authors.lastname: Lee
authors.affiliation: Blood Transfusion Research Institute, Korean Red Cross, Wonju, Korea.
authors.forename: A H
authors.initials: AH
authors.lastname: Lim
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Chonnam National University School of Medicine, Gwangju, Korea.
authors.forename: S H
authors.initials: SH
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
authors.forename: K U
authors.initials: KU
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunwan University School of Medicine, Seoul, Korea.|Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, Korea.
authors.forename: D
authors.initials: D
authors.lastname: Cho
mesh_terms: D044466:Asian People / Q000235:genetics; D001782:Blood Donors; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D011110:Polymorphism, Genetic; D060888:Real-Time Polymerase Chain Reaction; D056910:Republic of Korea; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D012204:Rh-Hr Blood-Group System
keywords: 
  
  RHD
  
  ; cost-effective; genotyping; phenotyping; strategy