Related Experiment Video
Updated: Jul 8, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The Novel Allele, HLA-C*14:167, With a Non-Synonymous Mutation in Exon 1.
Diamanto Kouniaki1, Theofilos Athanassiades1, Alexandra Tsirogianni1
1Immunology and Histocompatibility Department, Evangelismos General Hospital, Athens, Greece.
HLA
|July 7, 2026
Summary
The HLA-C*14:167 allele, a variant of the Human Leukocyte Antigen C gene, was identified. This allele features a specific single nucleotide substitution within its genetic sequence.
Area of Science:
- Immunogenetics
- Molecular biology
Background:
- Human Leukocyte Antigen (HLA) genes are crucial for immune response.
- Allelic variations within HLA genes can impact immune system function and disease susceptibility.
Purpose of the Study:
- To characterize a novel HLA allele, designated HLA-C*14:167.
- To identify the specific genetic alteration defining this new allele.
Main Methods:
- Sequence analysis of the HLA-C gene.
- Identification of nucleotide variations.
Main Results:
- A novel allele, HLA-C*14:167, was identified.
- The allele is defined by a single nucleotide substitution (ACC to ATC) at codon -17.
Conclusions:
- The discovery of HLA-C*14:167 expands the known repertoire of HLA-C alleles.
- This finding contributes to a more comprehensive understanding of HLA polymorphism.
More Related Videos
Related Concept Videos
02:32Exon 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...
Exon shuffling follows “splice frame rules.” Each exon has three reading...
01:49Multiple Allele Traits
The Concept of Multiple Allelism
02:18Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:11Genetic Lingo
Overview
01:39Mutations
Overview