Leber's Hereditary Optic Neuropathy: Clinical And Molecular Profile Of A Brazilian Sample.

dc.creatorMaciel-Guerra, Andréa Trevas
dc.creatorZanchetta, Luciene Maria
dc.creatorAmaral Fernandes, Marcela Scabello
dc.creatorAndrade, Paula Baloni
dc.creatordo Amor Divino Miranda, Paulo Maurício
dc.creatorSartorato, Edi Lúcia
dc.date2010-Sep
dc.date2015-11-27T13:17:59Z
dc.date2015-11-27T13:17:59Z
dc.date.accessioned2018-03-29T01:11:08Z
dc.date.available2018-03-29T01:11:08Z
dc.identifierOphthalmic Genetics. v. 31, n. 3, p. 126-8, 2010-Sep.
dc.identifier1744-5094
dc.identifier10.3109/13816810.2010.483721
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/20565249
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/198915
dc.identifier20565249
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1299148
dc.descriptionThe aim of this study was to describe clinical features and search for primary mitochondrial DNA (mtDNA) mutations in 13 unrelated Brazilian patients with Leber's hereditary optic neuropathy (LHON). Analysis of the G11778A, G3460A, and T14484C mutations was done by polymerase chain reaction and restriction fragment length polymorphism, and mutations were confirmed by direct sequencing. Mean age of onset was 24.5 years and all cases were bilateral. Sex ratio (12M:1F) and frequency of simultaneous involvement (9/13) were higher than in other studies. In nine cases there was familial recurrence: 24 male and two female relatives. Ten patients had a mutation: G11778A in six, T14484C in three and one G3460A. The frequency of patients bearing a primary mutation was lower than that described in multicentric studies but similar to that observed among Asians. A higher frequency of the T14484C mutation was detected. The contribution of Amerindians and Africans to the Brazilian mtDNA pool may account for differences in the type and frequency of primary LHON mutations.
dc.description31
dc.description126-8
dc.languageeng
dc.relationOphthalmic Genetics
dc.relationOphthalmic Genet.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAge Of Onset
dc.subjectBrazil
dc.subjectDna, Mitochondrial
dc.subjectFemale
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMutation
dc.subjectOptic Atrophy, Hereditary, Leber
dc.subjectPolymerase Chain Reaction
dc.subjectPolymorphism, Restriction Fragment Length
dc.subjectSex Ratio
dc.subjectYoung Adult
dc.titleLeber's Hereditary Optic Neuropathy: Clinical And Molecular Profile Of A Brazilian Sample.
dc.typeArtículos de revistas


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