Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes

Am J Hum Genet. 1992 Mar;50(3):559-66.

Abstract

Eleven Acadian families with Friedreich ataxia (FA) who were from southwest Louisiana were studied with a series of polymorphic markers spanning 310 kb in the D9S5-D9S15 region previously shown to be tightly linked to the disease locus. In particular, three very informative microsatellites were tested. Evidence for a strong founder effect was found, since a specific extended haplotype spanning 230 kb from 26P (D9S5) to MCT112 (D9S15) was present on 70% of independent FA chromosomes and only once (6%) on the normal ones. There was no evident correlation between haplotypes and clinical expression. The typing of an additional microsatellite (GS4) located 80 kb from MCT112 created a divergence of the main FA-linked haplotype, generating four minor and one major haplotype. A similar split was observed with GS4 in a patient homozygous for a rare 26P-to-MCT112 haplotype. These results suggest that GS4 is flanking marker for the disease locus, although other interpretations are possible.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Consanguinity
  • DNA, Satellite / genetics*
  • Female
  • Friedreich Ataxia / epidemiology
  • Friedreich Ataxia / ethnology
  • Friedreich Ataxia / genetics*
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes / genetics*
  • Humans
  • Louisiana / epidemiology
  • Male
  • Pedigree
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Restriction Fragment Length
  • Quebec / ethnology
  • Recombination, Genetic

Substances

  • DNA, Satellite
  • Genetic Markers