Dynamic mutation and its molecular cytogenetics

• Published in: Nihon rinshō Vol. 57; no. 4; p. 771
• Main Authors: Hori, T, Tsuji, S, Yamauchi, M
• Format: Journal Article
• Language: Japanese
• Published: Japan 01.04.1999
• Subjects: Chromosome Fragile Sites; Chromosome Fragility; Fragile X Syndrome - genetics; Humans; Minisatellite Repeats; Mutation; Neurodegenerative Diseases - genetics; Trinucleotide Repeats - genetics

Dynamic mutation, the mechanism of allelic expansion of the heritable unstable triplet repeat DNA sequences, has been the subject of intense investigation since its discovery in 1991 as the molecular basis for fragile X syndrome. The fundamental distinction between dynamic and other forms of mutatio...