Blog
About

18
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.

      Science (New York, N.Y.)

      ultrastructure, Base Sequence, Blotting, Southern, Chromosome Mapping, Fragile X Syndrome, genetics, Humans, Molecular Sequence Data, Pedigree, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Repetitive Sequences, Nucleic Acid, Restriction Mapping, X Chromosome

      Read this article at

      ScienceOpenPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          The sequence of a Pst I restriction fragment was determined that demonstrate instability in fragile X syndrome pedigrees. The region of instability was localized to a trinucleotide repeat p(CCG)n. The sequence flanking this repeat were identical in normal and affected individuals. The breakpoints in two somatic cell hybrids constructed to break at the fragile site also mapped to this repeat sequence. The repeat exhibits instability both when cloned in a nonhomologous host and after amplification by the polymerase chain reaction. These results suggest variation in the trinucleotide repeat copy number as the molecular basis for the instability and possibly the fragile site. This would account for the observed properties of this region in vivo and in vitro.

          Related collections

          Author and article information

          Journal
          1675488

          Comments

          Comment on this article