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Sex-linked Disorders

Sex-linked Disorders

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.

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”.

Pedigree Analysis

Pedigree Analysis

Genetic Lingo

Genetic Lingo

X and Y Chromosomes

X and Y Chromosomes

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...

The Y Chromosome Determines Maleness

The Y Chromosome Determines Maleness

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....

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Related Experiment Video

Updated: Sep 8, 2025

Author Spotlight: Insights and Innovations in Gene Expression Manipulation Techniques for Choroid Plexus Research

Author Spotlight: Insights and Innovations in Gene Expression Manipulation Techniques for Choroid Plexus Research

Published on: June 16, 2023

X-Linked Choroideremia.

Ashley Zhou¹, Stephen H Tsang², Tarun Sharma³

¹Vagelos College of Physicians and Surgeons, New York, NY, USA.

Advances in Experimental Medicine and Biology

|July 30, 2025

Summary

This summary is machine-generated.

Choroideremia (CHM) is an X-linked eye disease causing vision loss. This condition involves progressive degeneration of the retina and its supporting layers.

Keywords:

Choroideremia X-linked

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Area of Science:

Ophthalmology
Genetics
Cell Biology

Background:

Choroideremia (CHM) is the most common X-linked hereditary choroidal dystrophy.
It is characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium (RPE), and retina.
The prevalence of CHM is approximately 1 in 50,000 to 100,000 individuals.

Purpose of the Study:

To provide a comprehensive overview of Choroideremia.
To discuss the genetic basis and clinical manifestations of CHM.
To highlight current research and potential therapeutic strategies for CHM.

Main Methods:

Literature review of existing studies on Choroideremia.
Analysis of genetic data related to CHM.
Review of clinical trial data and research findings.

Main Results:

CHM is caused by mutations in the CHM gene, leading to a deficiency in the protein REP-1.
Clinical features include progressive vision loss, night blindness, and peripheral visual field constriction.
The degeneration affects the choroid, RPE, and neurosensory retina, leading to eventual blindness.

Conclusions:

Choroideremia is a severe X-linked retinal dystrophy with significant visual impairment.
Understanding the molecular mechanisms of CHM is crucial for developing effective treatments.
Ongoing research holds promise for gene therapy and other interventions to slow or halt disease progression.