Nearly 30 hereditary disorders in humans result from an increase in the number of copies of
simple repeats in genomic DNA. These DNA repeats seem to be predisposed to such …

The expansion of repeated sequences is the cause of over 30 inherited genetic diseases,
including Huntington disease, myotonic dystrophy (types 1 and 2), fragile X syndrome, many …

Abstract Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder
characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2 …

Abstract Analysis of 84 human X chromosomes for the presence of interrupting AGG
trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles …

We summarize available data on the frequencies of alleles at microsatellite loci in human
populations and compare observed distributions of allele frequencies to those generated by …

A clinical and molecular analysis of 439 individuals affected with myotonic dystrophy, from
101 kindreds, has shown that the size of the unstable CTG repeat detected in nearly all …

Friedreich's ataxia, the most frequent inherited ataxia, is caused, in the vast majority of
cases, by large GAA repeat expansions in the first intron of the frataxin gene. The normal …

The fragile X syndrome is the second leading cause of mental retardation after Down
syndrome. Fragile X premutations are not associated with any clinical phenotype but are at …

The remarkable fidelity of DNA replication and the predictable transmission of Mendelian
traits sometimes appear to attenuate the fluidity of the genome. In humans, abundant …

The human genome contains many repeated DNA sequences that vary in complexity of
repeating unit from a single nucleotide to a whole gene. The repeat sequences can be …