Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease Gene in Portugal

@article{Lima2005PopulationGO,
  title={Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease Gene in Portugal},
  author={M. Lima and M. C. Costa and R. Montiel and A. Ferro and C. Santos and C. Silva and C. Bettencourt and A. Sousa and J. Sequeiros and P. Coutinho and P. Maciel},
  journal={Human Heredity},
  year={2005},
  volume={60},
  pages={156 - 163}
}
  • M. Lima, M. C. Costa, +8 authors P. Maciel
  • Published 2005
  • Biology, Medicine
  • Human Heredity
  • Objective: To gain insights on the molecular mechanisms of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution with the representation of the disease. Methods: The number of CAG motifs in the MJD gene was determined in a representative sample of 1000 unrelated individuals. Associations between the repeat size and the epidemiological representation of MJD were tested. Results: The… CONTINUE READING
    38 Citations

    Figures, Tables, and Topics from this paper

    Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)
    • 22
    • Highly Influenced
    • PDF
    Population Genetics and New Insight into Range of CAG Repeats of Spinocerebellar Ataxia Type 3 in the Han Chinese Population
    • 19
    • Highly Influenced
    • PDF
    Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals.
    • 8
    • PDF
    Machado-Joseph Disease: from first descriptions to new perspectives
    • 116
    The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology.
    • 24
    Toward understanding Machado–Joseph disease
    • 172

    References

    SHOWING 1-10 OF 59 REFERENCES
    Correlation between CAG repeat length and clinical features in Machado-Joseph disease.
    • 264
    Improvement in the molecular diagnosis of Machado-Joseph disease.
    • 119
    • PDF
    CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • 1,567
    Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
    • 115
    Population genetics of trinucleotide repeat polymorphisms.
    • 99