Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci

Am J Med Genet. 1992;43(1-2):255-60. doi: 10.1002/ajmg.1320430140.

Abstract

Genomic insert DNAs from 45 probes representing 113.4 kb of the X chromosome were screened for AC dinucleotide repeat sequence. Two new AC repeat sequences were identified with length polymorphism based on variation in repeat copy number. One at DXS237 exhibits 44% heterozygosity and is potentially useful for rapid diagnosis and mapping of X-linked disorders in Xp22.3. The other, at DXS102 in Xq26, has 71% heterozygosity. This marker will improve accuracy of diagnoses by linkage for families with Börjeson-Forssman-Lehmann syndrome. Review of the literature has identified 31 PCR based markers on the X chromosome, with minimum heterozygosity of 50%, applicable to the mapping and diagnosis of X-linked disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • DNA / genetics
  • DNA Probes
  • Genetic Linkage
  • Genetic Markers*
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Repetitive Sequences, Nucleic Acid*
  • Sex Chromosome Aberrations / diagnosis
  • Sex Chromosome Aberrations / genetics
  • X Chromosome*

Substances

  • DNA Probes
  • Genetic Markers
  • DNA