Next generation sequencing of an australian family to identify the genetic basis of a rare blood group antigen

Pathology ◽  
2014 ◽  
Vol 46 ◽  
pp. S87-S88
Author(s):  
Rhiannon McBean ◽  
Tony Roscioli ◽  
Catherine Hyland ◽  
Robert Flower
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Genetic Basis ◽  
Blood Group Antigen ◽  
Next Generation ◽  
Australian Family ◽  
Generation Sequencing

scholarly journals Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases

2021 ◽  
pp. 1-9
Author(s):  
Tae Yeul Kim ◽  
HongBi Yu ◽  
Minh-Trang Thi Phan ◽  
Ja-Hyun Jang ◽  
Duck Cho
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
High Frequency ◽  
Blood Group Antigen ◽  
Clinical Settings ◽  
Next Generation ◽  
Hybridization Capture ◽  
Low Levels ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

<b><i>Background:</i></b> Next-generation sequencing (NGS) technology has been recently introduced into blood group genotyping; however, there are few studies using NGS-based blood group genotyping in real-world clinical settings. In this study, we applied NGS-based blood group genotyping into various immunohaematology cases encountered in routine clinical practice. <b><i>Methods:</i></b> This study included 4 immunohaematology cases: ABO subgroup, ABO chimerism, antibody to a high-frequency antigen (HFA), and anti-CD47 interference. We designed a hybridization capture-based NGS panel targeting 39 blood group-related genes and applied it to the 4 cases. <b><i>Results:</i></b> NGS analysis revealed a novel intronic variant (NM_020469.3:c.29-10T&#x3e;G) in a patient with an A<sub>el</sub> phenotype and detected a small fraction of <i>ABO</i>*<i>A1.02</i> (approximately 3–6%) coexisting with the major genotype <i>ABO</i>*<i>B.01</i>/<i>O.01.02</i> in dizygotic twins. In addition, NGS analysis found a homozygous stop-gain variant (NM_004827.3:c.376C&#x3e;T, p.Gln126*; <i>ABCG2</i>*<i>01N.01</i>) in a patient with an antibody to an HFA; consequently, this patient’s phenotype was predicted as Jr(a−). Lastly, blood group phenotypes predicted by NGS were concordant with those determined by serology in 2 patients treated with anti-CD47 drugs. <b><i>Conclusion:</i></b> NGS-based blood group genotyping can be used for identifying <i>ABO</i> subgroup alleles, low levels of blood group chimerism, and antibodies to HFAs. Furthermore, it can be applied to extended blood group antigen matching for patients treated with anti-CD47 drugs.

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 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.

THU0466 Unraveling the Genetic Basis of Familial SAPHO Syndrome with Next-Generation Sequencing

2014 ◽  
Vol 73 (Suppl 2) ◽  
pp. 344.3-344
Author(s):  
F.J. Del Castillo ◽  
T. Caniego ◽  
M. Hurtado-Nédélec ◽  
S. Chollet-Martín ◽  
E. Gόmez-Rosas ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Basis ◽  
Sapho Syndrome ◽  
Next Generation ◽  
Generation Sequencing

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
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