Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

Am J Med Genet. 1992;43(1-2):237-43. doi: 10.1002/ajmg.1320430138.

Abstract

Fragile X [fra (X)] syndrome is a frequently encountered form of mental retardation and is inherited as an X-linked semi-dominant trait with reduced penetrance. We report here the characterization of a highly polymorphic dinucleotide repeat, DXS 548, which is approximately 150 kb proximal to the fra(X) site and the associated FMR-1 gene. DXS 548 is tightly linked to the fra (X) syndrome locus (FRAXA) without recombination (LOD = 9.07 with q of 0) in selected families with crossovers between FRAXA and very closely linked flanking markers. This dinucleotide repeat could be useful in determining the parental origin of a new fra (X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosome Fragility*
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Fragile X Syndrome / genetics*
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Polymorphism, Genetic
  • Repetitive Sequences, Nucleic Acid*
  • X Chromosome*

Substances

  • DNA