Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.

Abstract excerpt

Large normal ('intermediate') alleles may produce de novo expansions in Huntington disease; nevertheless, there is very little evidence about their population prevalence and impact in daily practice, and there are conflicting reports about the extent of their instability. We estimated the frequency of large normal alleles (27-35 CAGs) and of reduced penetrance alleles (36-39 CAGs), as well as the frequency of...

Topics

• Age of Onset
• Alleles
• Family
• Female
• Gene Frequency
• Genetic Counseling
• Genomic Instability
• Genotype
• Humans
• Huntington Disease
• Male