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Related Concept Videos

Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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.
The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Human Genetics01:28

Human Genetics

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...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...

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Related Experiment Video

Updated: Jun 30, 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

[Study of CATCH 22: genetic aspects].

V G Antonenko, V I Ivanov, L M Konstantinova

    Vestnik Rossiiskoi Akademii Meditsinskikh Nauk
    |July 6, 2000
    PubMed
    Summary

    Molecular genetic testing can now detect del 22q11.2, a cause of congenital heart defects in CATCH 22 syndromes. A comprehensive approach identifies high-risk patients and potential causative genes for CATCH 22.

    Area of Science:

    • Genetics
    • Molecular Biology
    • Cardiology

    Context:

    • Molecular genetic techniques are increasingly integrated into clinical practice.
    • Congenital cardiovascular diseases are a significant manifestation of CATCH 22 syndromes.
    • The 22q11.2 deletion is a known etiological factor in CATCH 22.

    Purpose:

    • To introduce molecular genetic detection of del 22q11.2 for CATCH 22.
    • To present a complex approach for identifying high-risk patients.
    • To list candidate genes and present data on pathological phenotype development.

    Summary:

    • Molecular genetic techniques facilitate the detection of the 22q11.2 deletion, a key factor in CATCH 22.
    • A multidisciplinary examination strategy (clinical, syndromological, molecular genetic, computed) aids in identifying patients at high risk for CATCH 22.

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    In Vivo Modeling of the Morbid Human Genome using Danio rerio
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    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

    Published on: December 1, 2017

    Related Experiment Videos

    Last Updated: Jun 30, 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

    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

    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
    08:22

    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

    Published on: December 1, 2017

  • The study provides a list of candidate genes implicated in CATCH 22 manifestations and presents data on the development of pathological phenotypes in model systems.
  • Impact:

    • Enables earlier and more accurate diagnosis of CATCH 22 syndromes.
    • Facilitates risk stratification for congenital cardiovascular diseases.
    • Contributes to understanding the genetic basis and phenotypic expression of CATCH 22.