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Related Concept Videos

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...
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
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Exon Recombination02:32

Exon Recombination

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 has three reading...
Probability Laws01:49

Probability Laws

Overview
Rh Blood Group01:19

Rh Blood Group

The Rhesus (Rh) antigen is crucial in determining blood groups and ensuring compatibility during blood transfusions.

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Related Experiment Video

Updated: Jul 14, 2026

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

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A novel DRB1*04 allele.

R O Endres1, P J Wetzsteon, J Stein

  • 1HLA Laboratory, Blood Systems Laboratories, 2424 W. Erie Drive, Tempe, AZ, USA. rendres@bloodsystems.org

Tissue Antigens
|June 15, 2007
PubMed
Summary

A new Human Leukocyte Antigen allele, DRB1*0464, was discovered due to a single nucleotide change. This genetic variation alters the histidine to tyrosine amino acid in codon 13, impacting immune system research.

Area of Science:

  • Immunogenetics
  • Molecular biology
  • Human leukocyte antigen (HLA) system

Background:

  • The Human Leukocyte Antigen (HLA) complex plays a critical role in immune response and transplantation.
  • Allelic variations within HLA genes, particularly HLA-DRB1, are crucial for immune system function and disease susceptibility.
  • The HLA-DRB1*04 group comprises several alleles, each with specific nucleotide sequences and associated immune functions.

Purpose of the Study:

  • To report the discovery and characterization of a novel HLA-DRB1 allele.
  • To describe the specific genetic mutation differentiating this new allele from known variants.
  • To provide initial data on the familial segregation of this novel allele.

Main Methods:

  • High-resolution typing of the HLA-DRB1 gene was performed.

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  • Nucleotide sequencing was utilized to identify variations in the DNA sequence.
  • Haplotype analysis was conducted to determine the inheritance pattern within the family.
  • Main Results:

    • A novel allele, designated HLA-DRB1*0464, was identified.
    • This allele is characterized by a single nucleotide substitution at codon 13, resulting in an amino acid change from histidine to tyrosine.
    • The DRB1*0464 allele was found in a parent and one child within a North American Caucasian family, associated with the haplotype A*03, B*07, DRB1*0464, DRB4*0103, DQB1*0301.

    Conclusions:

    • The discovery of HLA-DRB1*0464 expands the known allelic diversity within the HLA-DRB1*04 group.
    • This novel allele may have implications for immune response, disease association studies, and organ transplantation.
    • Further research is warranted to understand the functional significance and population distribution of HLA-DRB1*0464.