title: mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.
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.
authors.affiliation: Department of Medical Genetics, University of Turku, Finland. tarlammi@utu.fi
authors.forename: T
authors.initials: T
authors.lastname: Lamminen
authors.forename: K
authors.initials: K
authors.lastname: Huoponen
authors.forename: P
authors.initials: P
authors.lastname: Sistonen
authors.forename: V
authors.initials: V
authors.lastname: Juvonen
authors.forename: P
authors.initials: P
authors.lastname: Lahermo
authors.forename: P
authors.initials: P
authors.lastname: Aula
authors.forename: E
authors.initials: E
authors.lastname: Nikoskelainen
authors.forename: M L
authors.initials: ML
authors.lastname: Savontaus
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005387:Finland; D018740:Genetic Heterogeneity; D014644:Genetic Variation / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010802:Phylogeny; D012150:Polymorphism, Restriction Fragment Length; D044465:White People / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial