mtDNA haplotype analysis in Finnish families with Leber hereditary optic neuroretinopathy

作者：Lamminen T^*; Huoponen K; Sistonen P; Juvonen V; Lahermo P; Aula P; Nikoskelainen E; Savontaus ML

来源：European Journal of Human Genetics, 1997, 5(5): 271-279.

• mitochondrial DNA mutation
• Leber hereditary optic neuropathy
• phylogenetic analysis
• haplogroup

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.

• 出版日期1997-10