Complete RHD next-generation sequencing: establishment of reference RHD alleles.
dc.contributor.author | Tounsi, WA | |
dc.contributor.author | Madgett, TE | |
dc.contributor.author | Avent, Neil | |
dc.date.accessioned | 2018-10-25T14:42:19Z | |
dc.date.issued | 2018-10-23 | |
dc.identifier.issn | 2473-9529 | |
dc.identifier.issn | 2473-9537 | |
dc.identifier.uri | http://hdl.handle.net/10026.1/12643 | |
dc.description.abstract |
The Rh blood group system (ISBT004) is the second most important blood group after ABO and is the most polymorphic one, with 55 antigens encoded by 2 genes, RHD and RHCE This research uses next-generation sequencing (NGS) to sequence the complete RHD gene by amplifying the whole gene using overlapping long-range polymerase chain reaction (LR-PCR) amplicons. The aim was to study different RHD alleles present in the population to establish reference RHD allele sequences by using the analysis of intronic single-nucleotide polymorphisms (SNPs) and their correlation to a specific Rh haplotype. Genomic DNA samples (n = 69) from blood donors of different serologically predicted genotypes including R1R1 (DCe/DCe), R2R2 (DcE/DcE), R1R2 (DCe/DcE), R2RZ (DcE/DCE), R1r (DCe/dce), R2r (DcE/dce), and R0r (Dce/dce) were sequenced and data were then mapped to the human genome reference sequence hg38. We focused on the analysis of hemizygous samples, as these by definition will only have a single copy of RHD For the 69 samples sequenced, different exonic SNPs were detected that correlate with known variants. Multiple intronic SNPs were found in all samples: 21 intronic SNPs were present in all samples indicating their specificity to the RHD*DAU0 (RHD*10.00) haplotype which the hg38 reference sequence encodes. Twenty-three intronic SNPs were found to be R2 haplotype specific, and 15 were linked to R1, R0, and RZ haplotypes. In conclusion, intronic SNPs may represent a novel diagnostic approach to investigate known and novel variants of the RHD and RHCE genes, while being a useful approach to establish reference RHD allele sequences. | |
dc.format.extent | 2713-2723 | |
dc.format.medium | ||
dc.language | en | |
dc.language.iso | en | |
dc.publisher | American Society of Hematology | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.subject | Gene Frequency | |
dc.subject | High-Throughput Nucleotide Sequencing | |
dc.subject | Humans | |
dc.subject | Rh-Hr Blood-Group System | |
dc.title | Complete RHD next-generation sequencing: establishment of reference RHD alleles. | |
dc.type | journal-article | |
dc.type | Journal Article | |
dc.type | Research Support, Non-U.S. Gov't | |
plymouth.author-url | https://www.ncbi.nlm.nih.gov/pubmed/30337299 | |
plymouth.issue | 20 | |
plymouth.volume | 2 | |
plymouth.publication-status | Published | |
plymouth.journal | Blood Advances | |
dc.identifier.doi | 10.1182/bloodadvances.2018017871 | |
plymouth.organisational-group | /Plymouth | |
plymouth.organisational-group | /Plymouth/Faculty of Health | |
plymouth.organisational-group | /Plymouth/Faculty of Health/School of Biomedical Sciences | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine/UoA01 Clinical Medicine | |
plymouth.organisational-group | /Plymouth/Research Groups | |
plymouth.organisational-group | /Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED) | |
plymouth.organisational-group | /Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED)/CBR | |
plymouth.organisational-group | /Plymouth/Research Groups/Plymouth Institute of Health and Care Research (PIHR) | |
plymouth.organisational-group | /Plymouth/Users by role | |
plymouth.organisational-group | /Plymouth/Users by role/Academics | |
dc.publisher.place | United States | |
dcterms.dateAccepted | 2018-09-13 | |
dc.rights.embargodate | 2019-12-7 | |
dc.identifier.eissn | 2473-9537 | |
dc.rights.embargoperiod | Not known | |
rioxxterms.versionofrecord | 10.1182/bloodadvances.2018017871 | |
rioxxterms.licenseref.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
rioxxterms.licenseref.startdate | 2018-10-23 | |
rioxxterms.type | Journal Article/Review |