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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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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.
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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”.
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X and Y Chromosomes

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

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Fragile X syndrome.

Paul J Hagerman1, Randi Hagerman2

  • 1Department of Biochemistry and Molecular Medicine and UC Davis MIND Institute, University of California, Davis, School of Medicine, One Shields Avenue, Davis, CA 95616, USA.

Current Biology : CB
|March 23, 2021
PubMed
Summary
This summary is machine-generated.

Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder. This review discusses its causes and current treatment strategies for FXS.

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Fragile X syndrome (FXS) is a leading genetic cause of intellectual disability and autism spectrum disorder.
  • FXS is an X-linked dominant disorder caused by a CGG trinucleotide repeat expansion in the FMR1 gene.

Purpose of the Study:

  • To provide a comprehensive overview of Fragile X syndrome (FXS).
  • To discuss the underlying causes, genetic basis, and current therapeutic approaches for FXS.

Main Methods:

  • Review of existing literature on Fragile X syndrome.
  • Discussion of genetic mechanisms and clinical manifestations.
  • Analysis of current and emerging treatment strategies.

Main Results:

  • FXS is caused by silencing of the FMR1 gene due to excessive CGG repeats, leading to a deficiency in fragile X mental retardation protein (FMRP).
  • Clinical features of FXS include intellectual disability, behavioral challenges, and characteristic physical features.
  • Current treatments focus on managing symptoms and improving quality of life, with ongoing research into targeted therapies.

Conclusions:

  • Understanding the genetic basis of FXS is crucial for diagnosis and management.
  • Multidisciplinary approaches are essential for addressing the complex needs of individuals with FXS.
  • Advances in research offer hope for more effective treatments for Fragile X syndrome.