Use este identificador para citar ou linkar para este item:
https://repositorio.ufba.br/handle/ri/15046
Registro completo de metadados
Campo DC | Valor | Idioma |
---|---|---|
dc.contributor.author | Manzoli, Gabrielle N. | - |
dc.contributor.author | Abe Sandes, Kiyoko | - |
dc.contributor.author | Bittles, Alan H. | - |
dc.contributor.author | Silva, Danniel S. D. da | - |
dc.contributor.author | Fernandes, Luciene da Cruz | - |
dc.contributor.author | Paulon, Roberta M. C. | - |
dc.contributor.author | Castro, Iza Cristina S. de | - |
dc.contributor.author | Padovani, Carla M. C. A. | - |
dc.contributor.author | Acosta, Angelina Xavier | - |
dc.creator | Manzoli, Gabrielle N. | - |
dc.creator | Abe Sandes, Kiyoko | - |
dc.creator | Bittles, Alan H. | - |
dc.creator | Silva, Danniel S. D. da | - |
dc.creator | Fernandes, Luciene da Cruz | - |
dc.creator | Paulon, Roberta M. C. | - |
dc.creator | Castro, Iza Cristina S. de | - |
dc.creator | Padovani, Carla M. C. A. | - |
dc.creator | Acosta, Angelina Xavier | - |
dc.date.accessioned | 2014-06-04T16:24:04Z | - |
dc.date.issued | 2013 | - |
dc.identifier.issn | 0165-5876 | - |
dc.identifier.uri | http://repositorio.ufba.br/ri/handle/ri/15046 | - |
dc.description | Texto completo: acesso restrito. p. 1077–1082 | pt_BR |
dc.description.abstract | Objective: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. Methods: The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), and A1555G in the mitochondrial gene MTRNR1 were initially analyzed, with additional mutations in GJB2 identified by sequencing the coding region of the gene. Results: Seven different mutations were present in GJB2 with mutations c.35delG and p.Arg75Gln, which are known to be pathogenic, identified in 37.0% of the subjects. Individuals homozygous for the c.35delG mutation were diagnosed in eight families, corresponding to 24.7% of unrelated individuals with nonsyndromic hearing impairment (NSHI), and an additional heterozygote for this mutation was present in a single family. Ten individuals (12.4%) in another family were heterozygous for the mutation p.Arg75Gln. Conclusions: Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied, probably due to the extensive inter-ethnic admixture that characterizes the peoples of Brazil, together with a high prevalence of community endogamy and consanguineous marriage. | pt_BR |
dc.language.iso | en | pt_BR |
dc.rights | Acesso Aberto | pt_BR |
dc.source | http://dx.doi.org/10.1016/j.ijporl.2013.04.001 | pt_BR |
dc.subject | Nonsyndromic hearing impairment | pt_BR |
dc.subject | Connexin | pt_BR |
dc.subject | GJB2 | pt_BR |
dc.subject | C.35delG | pt_BR |
dc.subject | P.Arg75Gln | pt_BR |
dc.subject | Consanguinity | pt_BR |
dc.title | Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil | pt_BR |
dc.title.alternative | International Journal of Pediatric Otorhinolaryngology | pt_BR |
dc.type | Artigo de Periódico | pt_BR |
dc.identifier.number | v. 77, n. 7 | pt_BR |
dc.embargo.liftdate | 10000-01-01 | - |
Aparece nas coleções: | Artigo Publicado em Periódico (Faculdade de Medicina) |
Arquivos associados a este item:
Arquivo | Descrição | Tamanho | Formato | |
---|---|---|---|---|
1-s2.0-S0165587613001493-main.pdf | 631,43 kB | Adobe PDF | Visualizar/Abrir |
Os itens no repositório estão protegidos por copyright, com todos os direitos reservados, salvo quando é indicado o contrário.