New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus

Hum Genet. 1990 Feb;84(3):263-6. doi: 10.1007/BF00200572.

Abstract

The polymorphic DNA marker DXS304 detected by probe U6.2 has recently been shown to be closer to the fragile X locus than previously available markers. Its usefulness has however been limited by its relatively low heterozygosity. We have isolated, by cosmid cloning, a 67 kilobase region around probe U6.2 and have characterized a new probe (U6.2-20E) that detects BanI and BstEII restriction fragment length polymorphisms (RFLPs). The BanI RFLP has a heterozygosity of 0.49 and is in partial linkage disequilibrium with the previously described polymorphism, with a combined heterozygosity of 0.63. Furthermore, we have found that the U6.2 original probe, which probably detects an insertion-deletion polymorphism, is also informative in BanI digests. Thus, the two informative RFLPs at the DXS304 locus can be conveniently tested in a single hybridization with a single digest. An updated linkage analysis confirms that DXS304 is distal to the fragile X locus. This informative locus can now be used effectively for genetic mapping of the Xq27-q28 region, and for diagnostic applications in fragile X or Hunter syndrome families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • DNA Probes
  • Female
  • Fragile X Syndrome / genetics*
  • Genetic Markers*
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length*
  • Sex Chromosome Aberrations / genetics*

Substances

  • DNA Probes
  • Genetic Markers