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Related Concept Videos

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...
Genetic Lingo01:11

Genetic Lingo

Overview
Pedigree Analysis01:35

Pedigree Analysis

Overview
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
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,...

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[Guidelines from the SP2A (Pediatric Society of Pulmonology and Allergology) for the management of asthma in children aged 6 to 12years (without management of asthma exacerbation) - Short version].

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The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2022
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[Update guidelines for management of asthmatic patients (from 12 years and older). Short version].

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[Update of the 2021 Recommendations for the management of and follow-up of adolescent asthmatic patients (over 12 years) under the guidance of the French Society of Pulmonology and the Paediatric Society of Pulmonology and Allergology. Long version].

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Gene Therapy: A Possible Alternative to CFTR Modulators?

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Related Experiment Video

Updated: May 21, 2026

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

[Genetics and modifier genes, atypical and rare forms].

C Férec1, V Scotet, J Beucher

  • 1Laboratoire de Génétique Moléculaire, CHRU de Brest, Hôpital Morvan, 29200 Brest, France. claude.ferec@univ-brest.fr

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|June 12, 2012
PubMed
Summary
This summary is machine-generated.

Cystic fibrosis (CF) is a genetic disorder influenced by CFTR mutations, but environmental and modifier genes also impact disease severity. This review explores CF genetics, including modifier genes and whole-genome analysis.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Related Experiment Videos

Last Updated: May 21, 2026

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

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Science

Context:

  • Cystic fibrosis (CF) is a prevalent, life-shortening genetic disorder in Caucasian populations.
  • The cloning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene advanced understanding of CF pathophysiology.
  • Significant phenotypic variability in CF severity is observed, not fully explained by CFTR mutations alone.

Purpose:

  • To review the genetic underpinnings of cystic fibrosis (CF) in both classical and atypical forms.
  • To summarize research on genetic modifier genes influencing CF disease severity.
  • To discuss emerging whole-genome analysis approaches in CF research.

Summary:

  • CFTR mutations are the primary cause of cystic fibrosis, but their impact varies.
  • Genetic variants in genes related to immunity and inflammation have been identified as modifiers of CF severity.
  • Whole-genome association studies represent a novel approach to understanding the genetic landscape of CF.

Impact:

  • Provides a comprehensive overview of CF genetic factors beyond CFTR mutations.
  • Highlights the role of modifier genes in explaining CF phenotypic variability.
  • Informs future research directions for personalized medicine and therapeutic strategies in CF.