title: Sequence variability of a prolonged tetranucleotide repeat.
abstract: A tetranucleotide repeat located in intron 20 of the RB gene consists of 16-26 CTTT(+/- T) repeats in 99% of the alleles. In the remaining 1% of alleles the segment is extended to a length of > 60 repeats. Sequence analysis revealed that the prolonged alleles either consisted of perfect CTTT(+/- T) repeats or irregular repeat sequences with variable combinations of C and T. The data provide clues to the mechanisms causing unstable expansions of repeats.
authors.affiliation: Radiumhemmet, Karolinska Hospital, Stockholm, Sweden.
authors.forename: Y
authors.initials: Y
authors.lastname: Liu
authors.forename: O
authors.initials: O
authors.lastname: Rasool
authors.forename: D
authors.initials: D
authors.lastname: Grandér
authors.forename: A
authors.initials: A
authors.lastname: Lindblom
authors.forename: S
authors.initials: S
authors.lastname: Einhorn
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D009838:Oligodeoxyribonucleotides; D004247:DNA