mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy

Eur J Hum Genet. Sep-Oct 1997;5(5):271-9.

Abstract

The mitochondrial DNA (mtDNA) sequence variation of 24 Finnish Leber hereditary optic neuroretinopathy (LHON) probands was characterized by sequencing and restriction endonuclease analyses. All LHON-associated substitutions and Caucasoid haplogroup-specific mutations were screened in the families. Analysis of the mtDNAs revealed that the Finnish LHON families have two unique features: an absence of the ND6/14484 mutation and a high number of families (10/24) without the primary mutations ND1/3460 and ND4/11778. Furthermore, the LHON families showed considerable mtDNA heterogeneity: among 24 families 22 haplotypes were detected. Overall, the haplogrouping of LHON families was similar to other European populations. However, the frequency of ND4/11778-positive families in haplogroup J was high, which may indicate that background mutations in this haplogroup together with the ND4/11778 primary mutation promote the penetrance of LHON.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • DNA, Mitochondrial / genetics*
  • European Continental Ancestry Group / genetics
  • Female
  • Finland
  • Genetic Heterogeneity
  • Genetic Variation / genetics
  • Haplotypes*
  • Humans
  • Male
  • Middle Aged
  • Optic Atrophies, Hereditary / genetics*
  • Optic Atrophies, Hereditary / physiopathology
  • Pedigree
  • Phylogeny*
  • Polymorphism, Restriction Fragment Length

Substances

  • DNA, Mitochondrial