Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304)

Am J Hum Genet. 1989 Aug;45(2):304-9.

Abstract

A new polymorphic DNA marker U6.2, defining the locus DXS304, was recently isolated and mapped to the Xq27 region of the X chromosome. In the previous communication we describe a linkage study encompassing 16 fragile-X families and using U6.2 and five previously described polymorphic markers at Xq26-q28. One recombination event was observed between DXS304 and the fragile-X locus in 36 informative meioses. Combined with information from other reports, our results suggest the following order of the examined loci on Xq: cen-F9-DXS105-DXS98-FRAXA-DXS304-(DXS52-F8 -DXS15). The locus DXS304 is closely linked to FRAXA, giving a peak lod score of 5.86 at a corresponding recombination fraction of .00. On the basis of the present results, it is apparent that U6.2 is a useful probe for carrier and prenatal diagnosis in fragile-X families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Female
  • Fragile X Syndrome / genetics*
  • Genetic Carrier Screening
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*
  • Recombination, Genetic
  • Sex Chromosome Aberrations / genetics*
  • X Chromosome*

Substances

  • Genetic Markers