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Related Concept Videos

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...
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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Alternative RNA Splicing02:18

Alternative 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...

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Rare human IFNG variants.

Thorsten Thye1, Christa Ehmen, Christopher D Intemann

  • 1Bernhard Nocht Institute for Tropical Medicine, Department of Molecular Medicine, Hamburg, Germany.

Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research
|December 30, 2009
PubMed
Summary
This summary is machine-generated.

Researchers identified a new human interferon-gamma (IFNG) variant, G54D, in Ghana. Further screening using high-resolution melting (HRM) analysis uncovered additional rare IFNG mutations in the population.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Last Updated: Jun 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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Published on: August 20, 2019

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

Area of Science:

  • Genetics and Genomics
  • Molecular Biology
  • Human Population Studies

Background:

  • The human interferon-gamma (IFNG) gene plays a crucial role in immune responses.
  • Genetic variations in IFNG can influence immune function and susceptibility to diseases.
  • Understanding IFNG genetic diversity in different populations is important for human health research.

Purpose of the Study:

  • To identify and characterize novel variants within the human interferon-gamma (IFNG) gene.
  • To investigate the genetic landscape of IFNG in a West African population.
  • To establish a baseline for IFNG genetic diversity in Ghana.

Main Methods:

  • Systematic mutation screening of the IFNG gene using high-resolution melting (HRM) analysis.
  • Identification of variants through DNA sequencing of polymerase chain reaction (PCR) products.
  • Confirmation of detected variants through repeated analysis and independent sequencing.

Main Results:

  • The G54D (c.287G>A, ss105106770) variant of IFNG was identified in DNA samples from Ghana.
  • HRM analysis revealed additional rare heterozygous mutations within the IFNG gene.
  • All identified variants were confirmed through independent molecular techniques.

Conclusions:

  • The study expands the known spectrum of human IFNG genetic variation.
  • The findings highlight the presence of rare IFNG mutations in West African populations.
  • Further research is warranted to explore the functional implications of these novel IFNG variants.