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Related Experiment Videos

A complex mutable polymorphism located within the fragile X gene

N Zhong1, C Dobkin, W T Brown

  • 1Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314.

Nature Genetics
|November 1, 1993
PubMed
Summary
This summary is machine-generated.

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Researchers discovered a second unstable microsatellite in the FMR-1 gene, linked to fragile X syndrome. This finding suggests that microsatellite instability, not just the CGG repeat, may drive FMR-1 mutations.

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Disease Genetics

Background:

  • Fragile X syndrome is a genetic disorder caused by mutations in the FMR-1 gene.
  • The (CGG)n repeat within the FMR-1 gene is known to be unstable and associated with the disease.

Purpose of the Study:

  • To investigate linkage disequilibrium and microsatellite characteristics within the FMR-1 gene.
  • To identify potential novel mutable loci associated with fragile X syndrome.

Main Methods:

  • DNA sequencing of 265 chromosomes from fragile X syndrome patients.
  • Analysis of microsatellite alleles and their mutation rates.

Main Results:

  • Unexpected linkage disequilibrium was found with FRAXAC2, an Alu-associated microsatellite in FMR-1.

Related Experiment Videos

  • 39 alleles of a complex microsatellite [(GT)x-C-(TA)y-(T)z] were identified.
  • A mutation rate of 3.3% was observed specifically in fragile X maternally derived meioses.

    • Conclusions:

    • The FMR-1 gene harbors a second mutable locus (FRAXAC2) beyond the (CGG)n repeat.
    • Tandem repeat instability in FMR-1 may involve multiple microsatellite regions.
    • Microsatellite instability could be a broader mechanism in FMR-1 gene mutations.