Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
Pedigree Analysis01:35

Pedigree Analysis

Overview
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Blood Types02:20

Blood Types

Human blood is classified into different types based on the presence of antigens on the red blood cell's surface and antibodies in the plasma. Proper identification of blood type is essential for successful blood transfusion. The International Society of Blood Transfusion has identified 38 human blood types based on the surface antigens on the red blood cells. The most common types are ABO, Rh, and MNS blood types.
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Long-Read Sequencing in Blood Group Genetics.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie·2026
Same author

Systematic discovery of UFM1 receptors reveals a regulatory module in DNA repair directing non-homologous end-joining.

Nature communications·2026
Same author

Non-cryopreserved Kx negative packed red cell concentrates to support hematopoietic stem cell transplantation in McLeod contiguous gene deletion syndrome.

Journal of human immunity·2026
Same author

Kell-Score-A web resource for estimating the immunogenicity of novel Kell blood group variants.

British journal of haematology·2026
Same author

Calling for Diversity: Improving Transfusion Safety Through High-Throughput Blood Group Microarray Genotyping.

Genomics, proteomics & bioinformatics·2026
Same author

International multicentre evaluation of a new anti-idiotypic anti-daratumumab for resolving pre-transfusion interferences.

Vox sanguinis·2026

Related Experiment Video

Updated: Jun 18, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

22.8K

Resolving Genotype-Phenotype Discrepancies of the Kidd Blood Group System Using Long-Read Nanopore Sequencing.

Morgan Gueuning1, Gian Andri Thun1, Nadine Trost2

  • 1Department of Research and Development, Blood Transfusion Service Zurich, Swiss Red Cross, Rütistrasse 19, 8952 Schlieren, Switzerland.

Biomedicines
|January 26, 2024
PubMed
Summary

Oxford Nanopore sequencing accurately resolved Kidd blood group discrepancies, identifying known and novel alleles and a previously undetected deletion. This long-read technology shows promise for complex blood group diagnostics.

Keywords:
Kidd blood group systemOxford nanopore sequencinghaplotypehigh-throughput genotypinglong-read sequencingstructural variant

More Related Videos

Sequencing of mRNA from Whole Blood using Nanopore Sequencing
11:26

Sequencing of mRNA from Whole Blood using Nanopore Sequencing

Published on: June 3, 2019

13.7K
Reusable Single Cell for Iterative Epigenomic Analyses
10:28

Reusable Single Cell for Iterative Epigenomic Analyses

Published on: February 11, 2022

1.3K

Related Experiment Videos

Last Updated: Jun 18, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

22.8K
Sequencing of mRNA from Whole Blood using Nanopore Sequencing
11:26

Sequencing of mRNA from Whole Blood using Nanopore Sequencing

Published on: June 3, 2019

13.7K
Reusable Single Cell for Iterative Epigenomic Analyses
10:28

Reusable Single Cell for Iterative Epigenomic Analyses

Published on: February 11, 2022

1.3K

Area of Science:

  • Genetics and Genomics
  • Transfusion Medicine
  • Molecular Diagnostics

Background:

  • Traditional blood group genotyping methods, often exon-focused, struggle to explain serological phenotypes.
  • Third-generation long-read sequencing offers improved accuracy for complex genetic variations.
  • The Kidd blood group system (JK), encoded by SLC14A1, presents diagnostic challenges.

Purpose of the Study:

  • To utilize Oxford Nanopore sequencing to resolve genotype-phenotype discrepancies in the Kidd blood group system.
  • To identify novel genetic variants and structural variations impacting blood group phenotypes.
  • To evaluate the efficacy of long-read sequencing in routine blood donor genotyping.

Main Methods:

  • Oxford Nanopore sequencing was applied to resolve discrepancies in 11,972 donors.
  • The entire coding region of SLC14A1 (~24 kb) was amplified using long-range PCR.
  • Barcoded amplicons were sequenced on a MinION, with findings confirmed by Sanger sequencing and bridge-PCRs.

Main Results:

  • Ten cases with unexplained Kidd blood group discrepancies were identified.
  • Five cases involved known weak/null alleles, and two revealed novel null alleles (c.119G>A and c.725G>A).
  • Three cases were attributed to a novel ~5 kb deletion spanning SLC14A1 exons 9-10, missed by other methods.

Conclusions:

  • Nanopore sequencing reliably detects single-nucleotide and structural variants in blood group diagnostics.
  • This technology is effective for resolving complex genotype-phenotype discrepancies, including deletions.
  • Long-read sequencing holds significant potential as a robust tool for molecular diagnostic portfolios.