scholarly journals Potential of next-generation sequencing to match blood group antigens for transfusion

2019 ◽  
Vol Volume 7 ◽  
pp. 11-22 ◽  
Author(s):  
Agnieszka Orzinska ◽  
Katarzyna Guz ◽  
Ewa Brojer
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Blood Group Antigens ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Next-Generation Sequencing Technologies in Blood Group Typing

2019 ◽  
Vol 47 (1) ◽  
pp. 4-13 ◽  
Author(s):  
Daniel Fürst ◽  
Chrysanthi Tsamadou ◽  
Christine Neuchel ◽  
Hubert Schrezenmeier ◽  
Joannis Mytilineos ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Large Scale ◽  
Cost Effective ◽  
Molecular Testing ◽  
Blood Group Antigens ◽  
Next Generation ◽  
Sequencing Technologies ◽  
Blood Group Typing ◽  
Generation Sequencing

Sequencing of the human genome has led to the definition of the genes for most of the relevant blood group systems, and the polymorphisms responsible for most of the clinically relevant blood group antigens are characterized. Molecular blood group typing is used in situations where erythrocytes are not available or where serological testing was inconclusive or not possible due to the lack of antisera. Also, molecular testing may be more cost-effective in certain situations. Molecular typing approaches are mostly based on either PCR with specific primers, DNA hybridization, or DNA sequencing. Particularly the transition of sequencing techniques from Sanger-based sequencing to next-generation sequencing (NGS) technologies has led to exciting new possibilities in blood group genotyping. We describe briefly the currently available NGS platforms and their specifications, depict the genetic background of blood group polymorphisms, and discuss applications for NGS approaches in immunohematology. As an example, we delineate a protocol for large-scale donor blood group screening established and in use at our institution. Furthermore, we discuss technical challenges and limitations as well as the prospect for future developments, including long-read sequencing technologies.

scholarly journals Using red blood cell genomics in transfusion medicine

Hematology ◽  
2015 ◽  
Vol 2015 (1) ◽  
pp. 168-176 ◽  
Author(s):  
Jill M. Johnsen
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Clinical Laboratory ◽  
Clinical Problem ◽  
Blood Type ◽  
Blood Group Antigens ◽  
Next Generation ◽  
Blood Typing ◽  
Blood Types ◽  
Generation Sequencing

Abstract Blood types (blood group antigens) are heritable polymorphic antigenic molecules on the surface of blood cells. These were amongst the first human Mendelian traits identified, and the genetic basis of nearly all of the hundreds of blood types is known. Clinical laboratory methods have proven useful to identify selected blood group gene variants, and use of genetic blood type information is becoming widespread. However, the breadth and complexity of clinically relevant blood group genetic variation poses challenges. With recent advances in next-generation sequencing technologies, a more comprehensive DNA sequence-based genetic blood typing approach is now feasible. This chapter introduces the practitioner to high-resolution genetic blood typing beginning with an overview of the genetics of blood group antigens, the clinical problem of allosensitization, current blood type testing methods, and then discussion of next-generation sequencing and its application to the problem of genetic blood typing.

scholarly journals Next-generation sequencing is a credible strategy for blood group genotyping

2014 ◽  
Vol 167 (4) ◽  
pp. 554-562 ◽  
Author(s):  
Yann Fichou ◽  
Marie-Pierre Audrézet ◽  
Paul Guéguen ◽  
Cédric Le Maréchal ◽  
Claude Férec
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Prediction of MNS Blood Group Antigens Using Next Generation Sequencing

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 1458-1458
Author(s):  
Marsha Wheeler ◽  
Chris Frazar ◽  
Kerry Lannert ◽  
Shelley N Fletcher ◽  
Haley Huston ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Blood Group ◽  
Dna Sequence ◽  
Blood Group System ◽  
Blood Group Antigens ◽  
Next Generation ◽  
Group System ◽  
Dna Variants ◽  
High Concordance ◽  
Generation Sequencing

Abstract Background The MNS blood group system is second in diversity only to the RH blood group system, with 46 described antigens. MNS system antigens are carried on glycophorins GPA and GPB that are products of the GYPA and GYPB genes, respectively. GYPA and GYPB are homologous paralogs which lie adjacent to each other on chromosome 4 in tandem with a third GYP paralog, GYPE. Current DNA-based testing methods for predicting MNS can be confounded by all types of genetic variation at the GYP locus, particularly in individuals of non-European ancestry. We sought to develop a next generation sequencing (NGS) approach for the systematic characterization of the GYP locus to accurately predict the common M/N and S/s blood group antigens and simultaneously identify other clinically relevant GYP DNA variants. Study Methods A total of 1139 samples were DNA sequenced; 1135 were from a previous study of blood donors self-identified to be of Asian American or Native American descent, and were 4 WHO reference DNAs (NIBSC). Blood donors had been tested for M and N by serology and for M/N and S/s using a single nucleotide variant (SNV) blood group genotyping platform (Bioarray). Samples were selected to enrich for MNS serology-SNV discrepancies or indeterminate results. BloodSeq is a NGS targeted panel that includes capture of 97.4kb over 3 genomic regions including the exons, pseudo-exons, introns, and proximal intergenic regions of GYPA, GYPB, and GYPE. This custom capture was used to generate Illumina, paired-end 100 bp DNA sequence reads. Raw sequence data was aligned to the human reference genome (hg19) and SNVs assessed using standard calling methods (GATK HaplotypeCaller). To predict MNS blood group system antigens, we determined variants which identified ISBT alleles; M/N antigens were defined as codominant alleles with multiple variant sites present in GYPA exon 2, while S/s antigens were defined by GYPB c.143T>C (p.Thr48Met) and 2 known GYPB silencing SNVs. Other DNA variants were cross-referenced with ISBT to predict associated blood group antigens. Results In a preliminary analyses, standard DNA variant calling methods predicted S/s (GYPB) SNVs accurately. However, alleles with M (GYPA) blood group variants exhibited a low call rate. Visualization of aligned reads indicated alleles corresponding to the M blood group sequence align poorly to the reference GYPA sequence. We traced the origin of these poor quality alignments to the presence of a region in GYPE with high sequence homology to the GYPA M allele. Notably, in the reference genome the GYPA gene has DNA variants indicative of theN genotype. With this knowledge, we developed a new approach which considers alignments of all 3 genes (GYPA, GYPB, GYPE) to predict M/N and S/s blood group antigens. Applying this method, BloodSeq predicted M with high concordance with serology (99.2%) and SNV genotype (99.6%), similar to the SNV genotype-serology concordance for M (98.9%). BloodSeq also predicted S/s in high concordance with the SNV predicted genotype (99.4% and 99.8%, respectively for S and s). Prediction of N by both BloodSeq and SNV genotype were similar to each other (99.6%) but exhibited lower accuracy (86.1% and 85.6%, respectively) when compared to serology. Interestingly, most (90%) of the N discrepancies were genetic prediction of absent N antigen but a positive N result by serology. We suspect these discrepancies result from cross-reactivity of reagent antibodies with "N" (an N-like antigen encoded by GYPB), which would require additional DNA sequence curation, or other underlying genetic variation. Additionally, 9 GYPA and GYPB variants indicative of other named ISBT alleles were detected, as well as a novel predicted frameshift variant in GYPA. Conclusion Our results demonstrate that a targeted NGS approach followed by an analysis pipeline customized for the GYP locus can simultaneously predict M/N and S/s blood groups and detect other GYP variants of known clinical significance. We propose that use of GYP locus-specific DNA sequence analysis strategies, such as addition of alternative reference sequences, should allow for automated and reliable classification of the M/N, S/s, and other variants in the MNS blood group system using next generation DNA sequencing. This work provides the foundation for a DNA-based, high resolution blood-typing method for the detection of clinically relevant MNS blood group system genetic variation. Disclosures Johnsen: CSL Behring: Consultancy; Octapharma: Consultancy.

P090 Development of a next generation sequencing based ABO blood group assay and typing software

2017 ◽  
Vol 78 ◽  
pp. 120
Author(s):  
William J. Lane ◽  
Helen Mah ◽  
John Baronas ◽  
Abigail Joseph ◽  
Judith Aeschlimann ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Abo Blood Group ◽  
Next Generation ◽  
Generation Sequencing

Next-generation sequencing: academic overkill or high-resolution routine blood group genotyping?

2015 ◽  
Vol 10 (S1) ◽  
pp. 250-256 ◽  
Author(s):  
N. D. Avent ◽  
T. E. Madgett ◽  
A. J. Halawani ◽  
M. A. Altayar ◽  
M. Kiernan ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
High Resolution ◽  
Blood Group ◽  
Next Generation ◽  
Routine Blood ◽  
Generation Sequencing

The use of next-generation sequencing for the determination of rare blood group genotypes

2017 ◽  
Vol 29 (3) ◽  
pp. 162-168 ◽  
Author(s):  
M. A. Jakobsen ◽  
C. Dellgren ◽  
C. Sheppard ◽  
M. Yazer ◽  
U. Sprogøe
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Next Generation ◽  
Generation Sequencing

Extended Blood Group Molecular Typing and Next-Generation Sequencing

2014 ◽  
Vol 28 (4) ◽  
pp. 177-186 ◽  
Author(s):  
Zhugong Liu ◽  
Meihong Liu ◽  
Teresita Mercado ◽  
Orieji Illoh ◽  
Richard Davey
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Molecular Typing ◽  
Next Generation ◽  
Generation Sequencing
Sign in / Sign up

Export Citation Format

Share Document