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

Pleiotropy01:33

Pleiotropy

39.9K
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,...
39.9K
Incomplete Dominance01:43

Incomplete Dominance

21.6K
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.
21.6K
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

6.5K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
6.5K
Lethal Alleles02:41

Lethal Alleles

15.0K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.0K
Pedigree Analysis01:35

Pedigree Analysis

84.0K
Overview
84.0K
Human Genetics01:28

Human Genetics

535
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.
The complex relationship between genetics and psychology is observable through common biological components such...
535

You might also read

Related Articles

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

Sort by
Same author

New variant in PLP1 gene associated with X-linked spastic paraplegia type 2: First report of a family in Colombia

Biomedica : revista del Instituto Nacional de Salud·2026
Same author

Genetic Ancestry and Carrier Variant Frequency Enrichment in a Colombian Andean Population: Insights From the Eje Cafetero.

American journal of medical genetics. Part A·2026
Same author

A Retrospective Analysis of Dengue-associated Hemophagocytic Lymphohistiocytosis in a Dengue-endemic Country.

The Pediatric infectious disease journal·2026
Same author

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic <i>LMNA</i> Variant R482: Maternal Transmission to Non-Identical Twins.

The application of clinical genetics·2026
Same author

Association Between miRNAs and the Diagnosis, Prognosis, and Recurrence of Patients with Meningioma: A Systematic Review.

Cellular and molecular neurobiology·2026
Same author

Allergic comorbidities among inborn errors of immunity in children attended in a high-complexity center in Cali, Colombia.

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)·2025

Related Experiment Video

Updated: Jun 7, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.6K

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.

Lorena Diaz-Ordoñez1,2, Paola Andrea Duque-Cordoba1, Daniel Andrés Nieva-Posso3

  • 1Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.

JMIR Research Protocols
|November 14, 2024
PubMed
Summary

This meta-analysis examines genotype-phenotype correlations in Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome. Findings will aid in predicting disease progression and severity for better patient management.

Keywords:
GALNS geneMorquio A syndromeMucopolysaccharidosis type IVN-acetylgalactosamine-6-sulfatasegenotypegenotype-phenotype associationslaboratoriesmeta-analysismutationspathophysiologyrare diseasesscoping review

More Related Videos

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

9.7K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K

Related Experiment Videos

Last Updated: Jun 7, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.6K
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

9.7K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K

Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Mucopolysaccharidosis type IVA (MPS IVA), or Morquio A syndrome, is a rare genetic disorder caused by GALNS gene mutations.
  • It leads to glycosaminoglycan accumulation, affecting skeletal, joint, and organ systems, causing diverse symptoms.
  • Understanding the genotype-phenotype relationship is key for prognosis and treatment.

Purpose of the Study:

  • To analyze the relationship between genotype and phenotype severity in MPS IVA patients.
  • To investigate the impact of variant type and location on disease presentation.

Main Methods:

  • Meta-analysis of studies with molecularly diagnosed MPS IVA patients and phenotype descriptions.
  • Literature search across PubMed, MEDLINE, ScienceDirect, and Scopus.
  • Data extraction and analysis by two independent reviewers using SPSS, including chi-square and regression analyses.

Main Results:

  • A literature search in January 2024 yielded 760 results.
  • The full review and analysis are anticipated by the end of 2024.

Conclusions:

  • This meta-analysis will consolidate and analyze genotype-phenotype data for MPS IVA.
  • The findings will enhance understanding of disease mechanisms, aiding in predicting progression and severity.