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Related Experiment Videos

Stability of the FMR1 CGG repeat in a Basque sample

I Arrieta1, A Gil, T Nuñez

  • 1Departamento de Biología Animal y Genética, Facultad de Ciencias, Universidad del País Vasco, Bilbao, Spain.

Human Biology
|February 11, 1999
PubMed
Summary

Fragile X syndrome, a common cause of inherited intellectual disability, appears less frequent in the Basque Country. This study found no evidence of the FMR1 gene mutation predisposing to fragile X syndrome in the Basque population, suggesting a genetic factor for the low incidence.

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Area of Science:

  • Genetics
  • Human Biology
  • Neurology

Background:

  • Fragile X syndrome is the most common inherited cause of intellectual disability.
  • It results from CGG trinucleotide repeat expansion in the FMR1 gene.
  • The fragile site FRAXA at chromosome Xq27.3 is characteristic of the syndrome.

Purpose of the Study:

  • To investigate the prevalence of FMR1 gene instability in the Basque population.
  • To explore reasons for the apparently low incidence of fragile X syndrome in the Basque Country.

Main Methods:

  • Analysis of 242 X chromosomes from normal individuals of Basque origin in Biscay province.
  • Examination of the CGG repeat region of the FMR1 gene.
  • Assessment of FRAXA site expression and repeat size.

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Main Results:

  • No FRAXA site expression was found in the Basque sample.
  • The CGG repeat size in the FMR1 gene was within the normal range for all individuals studied.
  • The prevalence of predisposing alleles for repeat instability in the Basque population was found to be 0.00% or near zero.

Conclusions:

  • The genetic stability of the FMR1 gene in the Basque population may explain the low incidence of fragile X syndrome.
  • The low incidence is not associated with flanking microsatellite markers.
  • Further research is needed to fully understand the genetic factors contributing to fragile X syndrome prevalence in different populations.