A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness
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- 作者：Soraya Bardien (1)
Hannique Human (1)
Tashneem Harris (2)
Gwynneth Hefke (1)
Rene Veikondis (3)
H Simon Schaaf (4) (5)
Lize van der Merwe (6)
John H Greinwald (7) (8)
Johan Fagan (2)
Greetje de Jong (1) - 刊名：BMC Medical Genetics
- 出版年：2009
- 出版时间：December 2009
- 年：2009
- 卷：10
- 期：1
- 全文大小：819KB
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26. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/10/2/prepub - 作者单位：Soraya Bardien (1)
Hannique Human (1)
Tashneem Harris (2)
Gwynneth Hefke (1)
Rene Veikondis (3)
H Simon Schaaf (4) (5)
Lize van der Merwe (6)
John H Greinwald (7) (8)
Johan Fagan (2)
Greetje de Jong (1)
1. Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa
2. Division of Otolaryngology, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa
3. Central Analytical Facility, Stellenbosch University, Cape Town, South Africa
4. Department of Paediatrics and Child Health, Faculty of Health Sciences, Stellenbosch University, Cape Town, South Africa
5. Tygerberg Children's Hospital, Cape Town, South Africa
6. Biostatistics Unit, Medical Research Council of South Africa, Cape Town, South Africa
7. Department of Otolaryngology-Head and Neck Surgery, Hearing and Deafness Center, University of Cincinnati College of Medicine, Cincinnati, USA
8. Department of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, USA - ISSN：1471-2350
文摘
Background South Africa has one of the highest incidences of multidrug-resistant tuberculosis (MDR-TB) in the world. Concomitantly, aminoglycosides are commonly used in this country as a treatment against MDR-TB. To date, at least five mutations are known to confer susceptibility to aminoglycoside-induced hearing loss. The aim of the present study was to develop a rapid screening method to determine whether these mutations are present in the South African population. Methods A multiplex method using the SNaPshot technique was used to screen for five mutations in the MT-RNR1 gene: A1555G, C1494T, T1095C, 961delT+C(n) and A827G. A total of 204 South African control samples, comprising 98 Mixed ancestry and 106 Black individuals were screened for the presence of the five mutations. Results A robust, cost-effective method was developed that detected the presence of all five sequence variants simultaneously. In this pilot study, the A1555G mutation was identified at a frequency of 0.9% in the Black control samples. The 961delT+C(n) variant was present in 6.6% of the Black controls and 2% of the Mixed ancestry controls. The T1095C, C1494T and A827G variants were not identified in any of the study participants. Conclusion The frequency of 0.9% for the A1555G mutation in the Black population in South Africa is of concern given the high incidence of MDR-TB in this particular ethnic group. Future larger studies are warranted to determine the true frequencies of the aminoglycoside deafness mutations in the general South African population. The high frequencies of the 961delT+C(n) variant observed in the controls suggest that this change is a common non-pathogenic polymorphism. This genetic method facilitates the identification of individuals at high risk of developing hearing loss prior to the start of aminoglycoside therapy. This is important in a low-resource country like South Africa where, despite their adverse side-effects, aminoglycosides will continue to be used routinely and are accompanied with very limited or no audiological monitoring.