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

Genetic Lingo01:11

Genetic Lingo

113.3K
Overview
113.3K
Multiple Allele Traits01:49

Multiple Allele Traits

37.7K
The Concept of Multiple Allelism
37.7K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

6.8K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
6.8K
Incomplete Dominance01:43

Incomplete Dominance

29.5K
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.
29.5K
Pedigree Analysis01:35

Pedigree Analysis

88.6K
Overview
88.6K
Genetic Variation01:25

Genetic Variation

1.1K
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,...
1.1K

You might also read

Related Articles

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

Sort by
Same author

[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].

Revue des maladies respiratoires·2025
Same author

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2024
Same author

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
Same author

[Update guidelines for management of asthmatic patients (from 12 years and older). Short version].

Revue des maladies respiratoires·2022
Same author

[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].

Revue des maladies respiratoires·2022
Same author

Gene Therapy: A Possible Alternative to CFTR Modulators?

Frontiers in pharmacology·2021
Same journal

Family experiences of paediatric palliative care during hospital-at-home: a systematic review.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2026
Same journal

Knowledge of maternity caregivers on vaccination BCG recommendations and circuits.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2026
Same journal

"CRANIOQUALITY study: Quality of life in children with non-syndromic craniosynostosis after surgery".

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2026
Same journal

Chronological evolution of brain imaging of hemiconvulsion-hemiplegia-epilepsy from 5 cases in Mayotte island.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2026
Same journal

Point-of-care capillary blood ketone testing to predict the need for intravenous or nasogastric tube rehydration in children with acute gastroenteritis.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2026
Same journal

Transition practices of patients with inflammatory bowel disease from pediatric to adult healthcare systems. Results from a national survey.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2026
See all related articles

Related Experiment Video

Updated: Dec 26, 2025

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

10.2K

Variant classifications, databases and genotype-phenotype correlations.

C Raynal1, H Corvol2

  • 1CHU de Montpellier, Laboratoire de Gé né tique Molé culaire Montpellier, France; Université de Montpellier, EA7402, Montpellier, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|March 17, 2020
PubMed
Summary
This summary is machine-generated.

The Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene is frequently studied, leading to increased identification of rare variants. Understanding their clinical impact is crucial for accurate diagnosis, prognosis, and genetic counseling for Cystic Fibrosis patients.

Keywords:
CFTR variantsClinical evolutionComplex alleleModifier genesPhenotypic spectrumRegulation factors

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.3K
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

14.1K

Related Experiment Videos

Last Updated: Dec 26, 2025

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

10.2K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.3K
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

14.1K

Area of Science:

  • Genetics and Molecular Biology
  • Medical Genetics
  • Pharmacogenetics

Background:

  • The Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene is a frequent target of genetic analysis worldwide.
  • An increasing number of rare CFTR variants are identified, necessitating clinical impact characterization.
  • Phenotypic variability in Cystic Fibrosis (CF) patients, even with identical CFTR variants, highlights the need for comprehensive understanding.

Purpose of the Study:

  • To characterize the clinical impact and phenotypic spectrum of identified CFTR variants.
  • To support accurate diagnosis, prognosis, and genetic counseling for CF patients and families.
  • To explore factors influencing CFTR-related disease presentation and therapeutic response.

Main Methods:

  • Development and utilization of complementary locus-specific databases (CFTR1, CFTR2, CFTR-France).
  • Integration of knowledge on CF pathophysiology, molecular biology advancements, and candidate modifier genes.
  • Analysis of genotype-phenotype correlations, including lung function, meconium ileus, and CFTR-related comorbidities.
  • Investigation of pharmacogenetics factors influencing response to CFTR-targeting therapies.

Main Results:

  • Three locus-specific databases (CFTR1, CFTR2, CFTR-France) were developed to manage CFTR variant information.
  • Growing knowledge identifies modifier genes, regulatory loci, and epigenetic factors contributing to phenotypic variability.
  • Pharmacogenetic factors are emerging as crucial in determining patient response to novel CFTR-targeting therapies.

Conclusions:

  • Characterizing CFTR variants and their phenotypic spectrum is essential for effective CF patient management.
  • Understanding genetic and non-genetic modifiers is key to explaining CF's phenotypic variability.
  • Pharmacogenetics plays a vital role in personalizing treatment strategies for CF patients, adding complexity to management.