ArticleIndian journal of human genetics2013
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing.
Article in Indian journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 9 citations in OpenAlex.
- Review
- Genetic etiology of non-syndromic hearing loss in Latin America.Human genetics · 2022Review
- Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.Current issues in molecular biology · 2022Review
- Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.BMC medical genetics · 2016Article
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3 authors at 1 institution in 1 country.
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Abstract
backgroundMUTATIONS OF MITOCHONDRIAL DNA WERE DESCRIBED INTO TWO GENES: The mitochondrially encoded 12S RNA (MT-RNR1) and the mitochondrially encoded tRNA serine(ucn) (MT-TS1). The A1555G mutation in MT-RNR1 gene is a frequent cause of deafness in different countries.
aimThe aim of this work was to investigate the frequency of the A1555G mutation in the MT-RNR1 gene in the mitochondrial DNA in Brazilians individuals with nonsyndromic deafness, and listeners. MATERIALS AND
methodsDNA samples were submitted to polymerase chain reaction and to posterior digestion with the Hae III enzyme.
resultsSeventy eight (78) DNA samples of deaf individuals were analyzed; 75 showed normality in the region investigated, two samples (2.5%) showed the T1291C substitution, which is not related to the cause of deafness, and one sample (1.3%) showed the A1555G mutation. Among the 70 non-impaired individuals no A1555G mutation or T1291C substitution was found.
conclusionWe can affirm that A1555G mutation is not prevalent, or it must be very rare in normal-hearing subjects in the State of Paraná, the south region of Brazil. The A1555G mutation frequency (1.3%) found in individual with nonsyndromic deafness is similar to those found in other populations, with nonsyndromic deafness. Consequently, it should be examined in deafness diagnosis. The investigation of the A1555G mutation can contribute towards the determination of the nonsyndromic deafness etiology, hence, contributing to the correct genetic counseling process.
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