Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genetic Lingo

Genetic Lingo

Pedigree Analysis

Pedigree Analysis

X-linked Traits

X-linked Traits

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”.

X-linked Traits

X-linked Traits

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”.

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Heritability

Heritability

Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic" a trait is,...

You might also read

Related Articles

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

Sort by

Same author

Familial colorectal cancer risk by subsite of primary cancer: a population-based study in Utah.

Alimentary pharmacology & therapeutics·2015

Same author

APC promoter 1B deletion in seven American families with familial adenomatous polyposis.

Clinical genetics·2014

Same author

Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.

Human genetics·2011

Same author

Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

Clinical genetics·2010

Same author

Quality in the technical performance of screening flexible sigmoidoscopy: recommendations of an international multi-society task group.

Gut·2005

Same author

COX-2 and colorectal cancer.

Current pharmaceutical design·2003

Search research articles

Related Experiment Video

Updated: Jul 1, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Familial association.

¹University of Utah, University of Utah Health Sciences Center, Salt Lake City 84132, USA.

Advances in Experimental Medicine and Biology

|March 10, 2000

Summary

This summary is machine-generated.

Understanding familial colon cancer risk involves studying rare inherited syndromes and common genetic factors interacting with environmental influences. Research aims to identify susceptibility genes and optimize screening strategies for colorectal cancer prevention.

More Related Videos

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Related Experiment Videos

Last Updated: Jul 1, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

Oncology
Genetics
Epidemiology

Background:

Familial risk for colorectal cancer presents as rare inherited syndromes or common familial clustering.
Genes for Familial Adenomatous Polyposis (FAP) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) are identified.
Common familial clustering likely results from gene-environment interactions.

Purpose of the Study:

Investigate the genetic and environmental factors contributing to colorectal cancer.
Identify susceptibility genes involved in common familial clustering.
Determine optimal screening strategies based on familial risk.

Main Methods:

Genetic analysis to identify genes responsible for rare inherited syndromes (FAP, HNPCC).
Research into cellular mechanisms of identified genes.
Epidemiological studies to explore gene-environment interactions in common familial clustering.
Analysis of familial risk to inform screening protocols.

Main Results:

Known genes for FAP and HNPCC are established.
Research is ongoing to identify common susceptibility genes.
Evidence suggests gene-environment interactions lead to polyps and colorectal cancer.

Conclusions:

Understanding both rare syndromes and common familial risk factors is crucial for colon cancer management.
Genetic testing and tailored screening strategies are essential for families with increased colon cancer risk.
Further research into gene-environment interactions will refine prevention and early detection efforts.