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Related Concept Videos

Trihybrid Crosses02:27

Trihybrid Crosses

Trihybrid Crosses
Some of Mendel’s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A trihybrid cross is a combination of three individual monohybrid crosses. For example, plant height (tall vs. short), seed shape (round vs. wrinkled), and seed color (yellow vs. green).
The F1 generation plants of a trihybrid cross are heterozygous for all three traits and produce eight gametes. Upon self-fertilization, these gametes have an equal chance to...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Genetic Variation01:25

Genetic Variation

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, which...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
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.

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Related Experiment Video

Updated: May 11, 2026

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

The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations.

K J Potter1, S Creighton, L Armstrong

  • 1Department of Pathology and Laboratory Medicine, University of British Columbia, B.C., Canada ; Department of Child and Family Research Institute, University of British Columbia, B.C., Canada.

Molecular Syndromology
|May 9, 2013
PubMed
Summary

Marfan syndrome, a connective tissue disorder, can present with severe cardiovascular issues even with C-terminal FBN1 gene mutations. This study highlights a specific variant linked to significant cardiovascular pathology, challenging previous assumptions about mild phenotypes.

Keywords:
Cardiovascular phenotypeDiagnostic criteriaFBN1Marfan syndromeNovel mutation

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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Last Updated: May 11, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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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

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Molecular Biology

Background:

  • Marfan syndrome is an autosomal dominant disorder of connective tissue, primarily linked to mutations in the FBN1 gene.
  • Key features involve ocular, cardiovascular, and skeletal systems, with mutations often occurring in specific FBN1 exons.
  • Missense mutations are common, but their phenotypic impact, especially in C-terminal regions, requires further elucidation.

Purpose of the Study:

  • To investigate the clinical significance of a specific FBN1 missense variant (c.7409G>A, p.Cys2470Tyr) in exon 59.
  • To evaluate the cardiovascular and systemic phenotype associated with C-terminal FBN1 mutations.
  • To explore genotype-phenotype correlations in Marfan syndrome.

Main Methods:

  • Clinical evaluation of five related individuals with a c.7409G>A FBN1 variant.
  • Genetic analysis including identification of the missense variant and a de novo deletion on chromosome 5.
  • Phenotypic assessment across skeletal, dermatological, neurological, ocular, and cardiovascular systems.

Main Results:

  • A c.7409G>A (p.Cys2470Tyr) missense variant in FBN1 exon 59 was associated with significant cardiovascular features in five individuals.
  • The family exhibited skeletal, dermatological, and neurological symptoms consistent with Marfan syndrome, but lacked major ophthalmological findings.
  • Dural ectasia was observed, supporting previous associations with C-terminal FBN1 mutations.

Conclusions:

  • FBN1 C-terminal missense mutations may not always lead to ophthalmological features of Marfan syndrome.
  • These mutations can confer a greater risk of cardiovascular pathology than previously suggested.
  • The findings underscore the importance of comprehensive cardiovascular assessment in patients with C-terminal FBN1 variants.