mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.
Eur J Hum Genet
; 5(5): 271-9, 1997.
Article
en En
| MEDLINE
| ID: mdl-9412783
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.
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Bases de datos:
MEDLINE
Asunto principal:
Filogenia
/
Haplotipos
/
ADN Mitocondrial
/
Atrofias Ópticas Hereditarias
Límite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Eur J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1997
Tipo del documento:
Article
País de afiliación:
Finlandia