A gene variant (allele) that produces a normal individual but is predisposed to become a full mutation in subsequent generations. Genetic analysis of human families has revealed the involvement of premutations in several genetic diseases. For example, in the gene for Huntington's disease, normal individuals have a string of 6 to 39 CAG repeats near the start of the coding sequence. In individuals with the disease, this region extends to 36–180 CAG repeats. Individuals with CAG repeats in the low 30s have a premutation for Huntington's disease; this region of the gene is amplified during meiosis to become an abnormal allele, sufficient to produce the disease in that individual's offspring.
Subjects: Chemistry — Biological Sciences.