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

Pedigree Analysis01:35

Pedigree Analysis

84.8K
Overview
84.8K
X-linked Traits01:19

X-linked Traits

55.2K
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”.
55.2K
The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

8.7K
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...
8.7K
X and Y Chromosomes02:32

X and Y Chromosomes

26.6K
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
26.6K
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

6.8K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
6.8K
Sex-linked Disorders01:43

Sex-linked Disorders

102.7K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.7K

You might also read

Related Articles

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

Sort by
Same author

MetaSTAARlite: an all-in-one tool for biobank-scale whole-genome sequencing meta-analysis.

Nature computational science·2026
Same author

Integrated Single-Cell and Spatial Transcriptomics Analyses Delineate a <i>BAG3</i>-Associated Macrophage Program with Microenvironmental and Prognostic Relevance in Hepatocellular Carcinoma.

Genes·2026
Same author

Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomes.

medRxiv : the preprint server for health sciences·2026
Same author

App-Based Training Module on Guiding Physicians' Prescription for Antibiotic Treatment of Gonorrhea: Cluster Randomized Controlled Trial.

JMIR mHealth and uHealth·2026
Same author

The Causal Relationship Between Long-Term Exposure to Major PM<sub>2.5</sub> Constituents and the Rate of Emergency Department Visits: A Difference-in-Differences Study.

Toxics·2025
Same author

The economic burden of outpatient chlamydia infections in Southern China: a cross-sectional study, 2021-2023.

BMJ open·2025

Related Experiment Video

Updated: Aug 29, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.0K

Robust association tests for quantitative traits on the X chromosome.

Zi-Ying Yang1,2, Wei Liu1,2, Yu-Xin Yuan1,2

  • 1Department of Biostatistics, State Key Laboratory of Organ Failure Research, Ministry of Education, and Guangdong Provincial Key Laboratory of Tropical Disease Research, School of Public Health, Southern Medical University, Guangzhou, China.

Heredity
|September 10, 2022
PubMed
Summary

Researchers developed four new methods to analyze genetic associations on the X chromosome, improving the study of complex human traits. These novel approaches enhance power and control error rates for X-linked genetic discoveries.

More Related Videos

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

3.8K
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

23.0K

Related Experiment Videos

Last Updated: Aug 29, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.0K
Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

3.8K
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

23.0K

Area of Science:

  • Genetics
  • Statistical Genetics
  • Human Complex Traits

Background:

  • Genome-wide association studies (GWAS) are crucial for understanding genetic contributions to human traits.
  • Existing GWAS methods primarily focus on autosomes, with limited approaches for the X chromosome due to its unique biological characteristics.
  • Current X-chromosome association tests for quantitative traits often neglect male data or only detect variance heterogeneity.

Purpose of the Study:

  • To propose novel statistical methods for identifying genetic loci on the X chromosome.
  • To develop methods that incorporate information from both sexes and account for mean and variance differences.
  • To improve the power and accuracy of genetic association studies for X-linked traits.

Main Methods:

  • Four new methods (QXcat, QZmax, QMVXcat, QMVZmax) were developed for X-chromosome association testing.
  • These methods assume identical risk alleles in females and males and a generalized genetic model for females.
  • The methods incorporate X-chromosome inactivation and test for differences in means and/or variances across genotypes.

Main Results:

  • Simulation studies confirmed that the proposed methods effectively control type I error rates.
  • The novel methods demonstrated superior statistical power compared to existing approaches under simulated conditions.
  • Application to real-world data identified 10 significant single nucleotide polymorphisms associated with multiple traits.

Conclusions:

  • The proposed methods offer a significant advancement for X-chromosome association studies.
  • These new tools enhance the ability to detect genetic associations with complex traits influenced by X-linked loci.
  • The findings pave the way for more comprehensive genetic analyses of human diseases and traits.