Linkage disequilibrium and haplotype analysis in German Friedreich ataxia families

Christine Zühlke*, Ulrike Gehlken, Sabine Purmann, Markus Kunisch, Bertram Müller-Myhsok, Friedmar Kreuz, Franco Laccone

*Corresponding author for this work
6 Citations (Scopus)


The main mutation causing Friedreich ataxia (FRDA) is the expansion of a GAA repeat localized within the intron between exon 1 and exon 2 of the gene X25. This expansion has been observed in 98% of FRDA chromosomes. To analyze frequencies of markers tightly linked to the Friedreich ataxia gene and to investigate wheter a limited number of ancestral chromosomes are shared by German FRDA families, a detailed analysis employing nine polymorphic markers was performed. We found strong linkage disequilibria and association of FRDA expansions with a few haplotypes. FRDA haplotypes differ significantly from control haplotypes. Our results confirm that GAA repeat expansions in intron 1 of the frataxin gene are limited to a few chromosomes and indicate an obvious founder effect in German patients. Based on these analyses, we estimate a minimum age of the mutation of 107 generations.

Original languageEnglish
JournalHuman Heredity
Issue number2
Pages (from-to)90-96
Number of pages7
Publication statusPublished - 03.1999

Research Areas and Centers

  • Research Area: Medical Genetics


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