A South African family with the mitochondrial A1555G mutation on haplogroup L0d |
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Authors: | H Human D Lombard G de Jong S Bardien |
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Institution: | Division of Molecular Biology and Human Genetics, University of Stellenbosch, Cape Town, South Africa |
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Abstract: | The most common mutation associated with aminoglycoside-induced deafness is A1555G and it has been found in diverse populations worldwide. In the present study we investigated a large South African family known to harbour A1555G. A total of 97 family members were genotyped using the SNaPshot technique and 76 were found to be A1555G-positive (on haplogroup L0d) and are therefore at risk of developing irreversible hearing loss. The method worked equally well on both blood (from adults) and buccal swabs (from children). Variants in the tRNASer(UCN), A10S in TRMU and 35delG in GJB2 genes were shown not to act as genetic modifiers in this family. It is important to identify mutation-positive individuals and inform them of their increased risk of developing aminoglycoside-induced deafness especially in a setting like South Africa where these drugs are still commonly used because of their efficacy and cost-effectiveness as a treatment for resistant forms of tuberculosis. |
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Keywords: | Aminoglycoside-induced deafness South African family A1555G TRMU: A10S GJB2: 35delG tRNASer(UCN) SNaPshot technique Haplogroup L0d |
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