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| Abreu-Silva,R.S.; Lezirovitz,K.; Braga,M.C.C.; Spinelli,M.; Pirana,S.; Della-Rosa,V.A.; Otto,P.A.; Mingroni-Netto,R.C.. |
| Mitochondrial mutations are responsible for at least 1% of the cases of hereditary deafness, but the contribution of each mutation has not yet been defined in African-derived or native American genetic backgrounds. A total of 203 unselected hearing-impaired patients were screened for the presence of the mitochondrial mutation A1555G in the 12S rRNA gene and mutations in the tRNA Ser(UCN) gene in order to assess their frequency in the ethnically admixed Brazilian population. We found four individuals with A1555G mutation (2%), which is a frequency similar to those reported for European-derived populations in unselected samples. On the other hand, complete sequencing of the tRNA Ser(UCN) did not reveal reported pathogenic substitutions, namely A7445G,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mitochondrial DNA; Hearing impairment; A1555G mutation; TRNA Ser(UCN) mutations; European- and African- Brazilian patients. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000200008 |
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