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

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

16.7K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
16.7K
Blood Types02:20

Blood Types

19.0K
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...
19.0K
Exon Recombination02:32

Exon Recombination

3.7K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.7K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.1K
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%...
18.1K
The ABO Blood Group01:12

The ABO Blood Group

2.4K
The ABO blood group system is a critical element of transfusion medicine, essential for determining blood compatibility in transfusions and organ transplants. It is based on specific antigens, or agglutinogens, present on the surface of red blood cells (RBCs) and corresponding antibodies, or agglutinins, in the blood plasma.
Antigens in the ABO Blood Group System
Antigens are substances that can trigger an immune response, leading to the production of antibodies. In the ABO blood group system,...
2.4K
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

12.0K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
12.0K

You might also read

Related Articles

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

Sort by
Same author

Dynamic Temporal Modeling of Abdominal Aortic Aneurysm Morphology with Z-SINDy.

medRxiv : the preprint server for health sciences·2026
Same author

Update on programs for achieving Specialist in Blood Banking certification in the United States: 2023.

Immunohematology·2023
Same author

Increasing Rates of Esophageal Stricture and Dilation Over 2 Decades in Eosinophilic Esophagitis.

Gastro hep advances·2023
Same author

Novel <i>KEL</i> allele associated with loss of Kp<sup>b</sup> identified in a white blood donor.

Immunohematology·2022
Same author

Lombardy diagnostic and therapeutic network of thrombotic microangiopathy.

Orphanet journal of rare diseases·2022
Same author

Assessment of common red blood cell pretreatments to yield an accurate serologic antigen phenotype compared with genotype-predicted phenotype.

Immunohematology·2021

Related Experiment Video

Updated: Oct 8, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.1K

New ABO intron 1 variant alleles.

K Fennell1, M A Keller2, M A Villa3

  • 1Laboratory Manager, Thermo Fisher Scientific , Austin, TX.

Immunohematology
|December 29, 2021
PubMed
Summary

Eight new genetic alterations in ABO alleles were identified in 15 cases with unusual ABO blood group phenotypes. Molecular and serologic characterization of these ABO alleles aids in resolving blood group discrepancies.

More Related Videos

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.0K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.4K

Related Experiment Videos

Last Updated: Oct 8, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.1K
High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.0K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.4K

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Unusual ABO phenotypes often result from genetic variants affecting ABO transferase activity and antigen expression.
  • Reduced or undetectable ABO antigen expression can lead to significant discrepancies in blood grouping.

Purpose of the Study:

  • To identify and characterize novel genetic alterations responsible for reduced or undetectable ABO antigen expression.
  • To investigate the molecular basis of discrepant ABO phenotypes.

Main Methods:

  • Standard forward and reverse ABO grouping, adsorption-heat elution, and saliva testing were performed.
  • Genomic DNA was PCR-amplified to cover the ABO coding sequence, splice junctions, promoter, and intron 1 enhancer.
  • Amplified products were sequenced using next-generation or Sanger methods.

Main Results:

  • Eight previously unreported ABO alleles were identified in 15 analyzed cases.
  • Variants were found to alter splice sites (intron 1 donor/acceptor) and transcription factor-binding sites (GATA-1, RUNX1, C/EBP) within the ABO gene.
  • Specific novel alleles include ABO*A(28+1C), ABO*A(29-5G), ABO*A(28+5792T), ABO*A(28+5859A), ABO*A(28+5860G), ABO*B(28+5877T), ABO*B(28+5878G), and ABO*A(28+5843A).

Conclusions:

  • The identified genetic alterations provide molecular explanations for reduced or absent ABO antigen expression.
  • Molecular and serologic characterization of ABO alleles is crucial for accurate blood group identification.
  • This study contributes to resolving complex cases of ABO discrepancies.