A strategy to reveal high-frequency RFLPs along the human X chromosome

Am J Hum Genet. 1984 May;36(3):546-64.

Abstract

Fifteen human X-chromosome-specific DNA fragments, localized to particular regions of that chromosome, were used to search for restriction fragment length polymorphisms. A screening panel prepared by digesting DNA from only two females and one male with 24 restriction enzymes was sufficient to reveal two-allele polymorphisms among one-third of the probes tested. These polymorphisms, as theoretically anticipated, showed minor allele frequencies above 20%, as a rule. Such high-frequency polymorphism allowed identifying females, from pedigrees segregating three X-linked diseases, who were multiply heterozygous for polymorphic loci spread throughout the X chromosome. In addition, two of the 24 enzymes tested with these X-specific probes, Msp I and Taq I, generate fragment sizes in DNA-blotting experiments that, on average, are significantly larger than expected from nearest neighbor predicted recognition site frequencies.

Publication types

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

MeSH terms

  • Alleles
  • Chromosome Mapping
  • DNA / genetics*
  • DNA Restriction Enzymes / pharmacology*
  • DNA, Recombinant*
  • Female
  • Fragile X Syndrome / genetics
  • Gene Frequency
  • Genetic Carrier Screening
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Muscular Dystrophies / genetics
  • Pedigree
  • Polymorphism, Genetic*
  • X Chromosome / analysis*

Substances

  • DNA, Recombinant
  • Genetic Markers
  • DNA
  • DNA Restriction Enzymes