Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedrich's ataxia

Hum Genet. 1990 Jun;85(1):98-100. doi: 10.1007/BF00276331.

Abstract

We have identified a hypervariable microsatellite sequence within the chromosome 9 marker MCT112 (D9S15), which we have previously shown to be tightly linked to Friedreich's ataxia (FRDA). The system detects 7 alleles ranging in size from 195 to 209 base pairs, and substantially increases informativity at the MCT112 locus. This enhances its use for genetic counselling in affected families. Recalculated combined linkage data between the FRDA locus and MCT112 gives a maximal lod score of 66.91 at a recombination fraction of theta = 0). There is no evidence of linkage disequilibrium.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Chromosomes, Human, Pair 9
  • DNA
  • DNA, Satellite / genetics*
  • Friedreich Ataxia / genetics*
  • Genetic Linkage / genetics*
  • Genetic Markers
  • Humans
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics*

Substances

  • DNA, Satellite
  • Genetic Markers
  • DNA