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

Complementation Tests00:49

Complementation Tests

6.4K
A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
6.4K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

98
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
98
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

79
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...
79
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

73
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
73
Complement System01:27

Complement System

12.0K
The complement system is a group of approximately 20 plasma proteins that strengthen the body's defenses against infections through opsonization, inflammation, and cell lysis. Opsonization involves coating pathogens with complement proteins, making them more recognizable and facilitating phagocyte engulfment. Certain complement proteins induce inflammation that attracts immune cells to the site of infection. Cell lysis involves the destruction of pathogens through the formation of a...
12.0K
Incomplete Dominance01:43

Incomplete Dominance

32.1K
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.
32.1K

You might also read

Related Articles

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

Sort by
Same author

Age-related macular degeneration and cerebral amyloid angiopathy have similar pathologies from cholesterol-APOE-amyloid-β-complement mediated inflammation.

Progress in retinal and eye research·2026
Same author

Cytomegalovirus-encoded immediate early 1 protein perturbs neural progenitor proliferation via interfering with host PML-DISC1 interaction.

The Journal of biological chemistry·2026
Same author

Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.

Human genomics·2025
Same author

DISC1-PML protein interaction for congenital CMV infection-induced cortical neural progenitor deficit: perturbance of host signaling via viral IE1.

bioRxiv : the preprint server for biology·2025
Same author

Reprogramming Factors Activate a Non-Canonical Oxidative Resilience Pathway That Can Rejuvenate RPEs and Restore Vision.

bioRxiv : the preprint server for biology·2025
Same author

Optimized Minimally Invasive Transscleral Subretinal Injection Technique in Mouse.

Journal of visualized experiments : JoVE·2025
Same journal

Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families.

Human genomics·2026
Same journal

National genomic projects in Asia and Africa: a review.

Human genomics·2026
Same journal

Analysis of whole-exome sequencing data from nearly 10,000 Iranian individuals: identification of recessive mitochondrial disease variants and proposal of a population-specific carrier screening panel.

Human genomics·2026
Same journal

Replicating lipid micelles: a feasible precursor to the origin of life and the earliest appearance of genomes.

Human genomics·2026
Same journal

Beckwith-Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy: a case report.

Human genomics·2026
Same journal

Dynamic responses in the human methylome to exertional heat exhaustion, heat injury, and heat stroke.

Human genomics·2026
See all related articles

Related Experiment Video

Updated: Mar 19, 2026

Functional Complementation Analysis FCA: A Laboratory Exercise Designed and Implemented to Supplement the Teaching of Biochemical Pathways
09:27

Functional Complementation Analysis FCA: A Laboratory Exercise Designed and Implemented to Supplement the Teaching of Biochemical Pathways

Published on: June 24, 2016

18.3K

AMD and the alternative complement pathway: genetics and functional implications.

Perciliz L Tan1,2, Catherine Bowes Rickman2,3, Nicholas Katsanis4,5

  • 1Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, 27710, USA.

Human Genomics
|June 23, 2016
PubMed
Summary
This summary is machine-generated.

Age-related macular degeneration (AMD) is a leading cause of blindness. Genetic factors, particularly the complement pathway, significantly contribute to this neurodegenerative eye disease.

More Related Videos

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

14.5K
High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.3K

Related Experiment Videos

Last Updated: Mar 19, 2026

Functional Complementation Analysis FCA: A Laboratory Exercise Designed and Implemented to Supplement the Teaching of Biochemical Pathways
09:27

Functional Complementation Analysis FCA: A Laboratory Exercise Designed and Implemented to Supplement the Teaching of Biochemical Pathways

Published on: June 24, 2016

18.3K
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

14.5K
High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.3K

Area of Science:

  • Ophthalmology
  • Neurodegenerative diseases
  • Genetics

Background:

  • Age-related macular degeneration (AMD) is a primary cause of irreversible blindness in Western societies, affecting up to 8% of individuals over 60.
  • This ocular neurodegenerative disorder involves the progressive deterioration of the macula, leading to central vision loss.

Purpose of the Study:

  • To review the genetic architecture of age-related macular degeneration (AMD).
  • To explore the mechanistic links between photoreceptor degeneration and the alternative complement pathway in AMD pathogenesis.

Main Methods:

  • Review of current literature on the genetic architecture of AMD.
  • Analysis of the role of common and rare genetic alleles in AMD susceptibility.
  • Exploration of the connection between photoreceptor degeneration and the complement cascade.

Main Results:

  • Genetic and genomic advancements have elucidated the genetic underpinnings of AMD.
  • Both common and rare genetic variants contribute to AMD susceptibility.
  • The alternative complement pathway is identified as a key genetic driver of AMD.

Conclusions:

  • Genetics plays a crucial role in the development of age-related macular degeneration.
  • The alternative complement pathway is a significant factor in the neurodegenerative process of AMD.
  • Further research into genetic factors may yield new therapeutic strategies for AMD.