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

Inheritance01:25

Inheritance

2.0K
Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype...
2.0K
Polygenic Traits01:18

Polygenic Traits

70.7K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
70.7K
Polygenic Traits01:18

Polygenic Traits

11.5K
11.5K
Genetic Lingo01:11

Genetic Lingo

118.5K
Overview
118.5K
X-linked Traits01:19

X-linked Traits

7.9K
7.9K
X-linked Traits01:19

X-linked Traits

59.9K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
59.9K

You might also read

Related Articles

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

Sort by
Same author

Endoscopic Complications Following EUS-B Fine-Needle Aspiration Performed by Interventional Pulmonologists: Incidence, Characteristics, and Prospective Cohort Analysis.

Journal of bronchology & interventional pulmonology·2026
Same author

Response of ultrasound-assessed synovitis to baricitinib, in monotherapy and combined with methotrexate, compared with etanercept in rheumatoid arthritis: a randomised, international, multicentre trial.

Annals of the rheumatic diseases·2026
Same author

Real-world evidence on diagnostic pathways and biopsy optimization for PD-L1 and molecular profiling in advanced non-small cell lung cancer: A four-year cohort analysis.

Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia·2026
Same author

Comment on: Loss of antiphospholipid antibody positivity decreases the risk of recurrent thrombosis in thrombotic antiphospholipid syndrome: reply.

Rheumatology (Oxford, England)·2026
Same author

Loss of antiphospholipid antibody positivity decreases the risk of recurrent thrombosis in thrombotic antiphospholipid syndrome.

Rheumatology (Oxford, England)·2025
Same author

Supernatant from endobronchial ultrasound-guided transbronchial needle aspiration samples for molecular profiling in NSCLC: a systematic review and meta-analysis.

European respiratory review : an official journal of the European Respiratory Society·2025
Same journal

Early onset cerebral oedema in adult diabetic ketoacidosis with complete resolution.

BMJ case reports·2026
Same journal

Third salvage haematopoietic stem cell transplantation in a child with very early-onset IBD due to interleukin-10 receptor deficiency.

BMJ case reports·2026
Same journal

Fungal keratitis caused by <i>Trichomonascus ciferrii</i> in an immunocompetent adult.

BMJ case reports·2026
Same journal

An unusual cause of acute small bowel obstruction in a child: multiple trichobezoars diagnosed on CT.

BMJ case reports·2026
Same journal

Massive haemoptysis secondary to pulmonary artery aneurysms in Hughes-Stovin syndrome: a variant of Behçet's disease managed with immunosuppression and endovascular embolisation.

BMJ case reports·2026
Same journal

The blue dilemma: a rare presentation of dual hemoglobinopathy in a pregnant patient.

BMJ case reports·2026
See all related articles

Related Experiment Video

Updated: Apr 12, 2026

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

23.5K

Can we change a genetically determined future?

Lígia Rodrigues Fernandes1, Luis Vaz Rodrigues1, Filipa Costa1

  • 1Department of Pulmonology, Hospital Geral-Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

BMJ Case Reports
|May 17, 2015
PubMed
Summary
This summary is machine-generated.

This study tracks a patient with severe alpha-1 antitrypsin (AAT) deficiency due to the rare Q0Ourém allele over 18 years. Augmentation therapy maintained stability and quality of life despite severe lung disease.

Area of Science:

  • Pulmonology
  • Genetics
  • Rare diseases

Background:

  • Alpha-1 antitrypsin (AAT) deficiency is a genetic disorder that can lead to severe lung disease.

More Related Videos

Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis
10:08

Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis

Published on: August 12, 2019

17.8K
High-throughput Screening for Protein-based Inheritance in S. cerevisiae
08:12

High-throughput Screening for Protein-based Inheritance in S. cerevisiae

Published on: August 8, 2017

6.8K

Related Experiment Videos

Last Updated: Apr 12, 2026

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

23.5K
Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis
10:08

Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis

Published on: August 12, 2019

17.8K
High-throughput Screening for Protein-based Inheritance in S. cerevisiae
08:12

High-throughput Screening for Protein-based Inheritance in S. cerevisiae

Published on: August 8, 2017

6.8K
  • Rare null alleles, such as Q0Ourém, present unique challenges in diagnosis and management.
  • Long-term clinical data on patients with specific rare AAT deficiency alleles are limited.