A South African family with the mitochondrial A1555G mutation on haplogroup L0d

作者：Human H^*; Lombard D; de Jong G; Bardien S

来源：Biochemical and Biophysical Research Communications, 2009, 382(2): 390-394.

DOI：10.1016/j.bbrc.2009.03.032

• Aminoglycoside-induced deafness
• South African family
• A1555G
• TRMU: A10S
• GJB2: 35delG
• tRNA(Scr(UCN))
• SNaPshot technique
• Haplogroup L0d

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 tRNA(Ser(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.

• 出版日期2009-5-1