A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness.

BMC Medical Genetics
Soraya BardienGreetje de Jong

Abstract

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. 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. 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. The frequency of 0.9% for the A1555G mutation in t...Continue Reading

References

Feb 1, 1991·Journal of Medical Genetics·D N HuH Wong
Oct 1, 1983·Journal of Medical Genetics·D L ViljoenP Beighton
Oct 24, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hsiao-Yuan TangRaye Lynn Alford
Feb 18, 2006·Biochemical and Biophysical Research Communications·Denise CassandriniClaudio Bruno
Apr 4, 2006·Current Opinion in Pulmonary Medicine·Juan Carlos Palomino
May 3, 2006·Biochemical and Biophysical Research Communications·Guangqian XingXin Cao
Jan 3, 2007·Cell Research·Guangqian XingXin Cao
Feb 6, 2007·International Journal of Pediatric Otorhinolaryngology·Luis Pablo GravinaLilien Chertkoff
Jan 29, 2008·BMC Infectious Diseases·Ellen M Zager, Ruth McNerney
Mar 1, 2008·Proceedings of the National Academy of Sciences of the United States of America·Sven N HobbieErik C Böttger

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Citations

Nov 10, 2011·Applied Biochemistry and Biotechnology·Zi-Fen GuoDuan-Fang Liao
Jun 7, 2011·The Journal of Antimicrobial Chemotherapy·Ann SturdyGraham S Cooke
Aug 17, 2010·Biological Chemistry·Jason C PooleDouglas C Wallace
Aug 8, 2009·Future Microbiology·Ben J MaraisPeter R Donald
Sep 15, 2014·International Journal of Pediatric Otorhinolaryngology·Akeem O LasisiMustafa Tekin
Aug 16, 2015·Otolaryngologic Clinics of North America·Kay W Chang
Sep 11, 2012·The Journal of Infection·James A SeddonH Simon Schaaf
Nov 29, 2011·Tuberculosis·James A SeddonH Simon Schaaf
Mar 23, 2010·Mitochondrion·Richard G Boles, Philippe Friedlich
Oct 20, 2010·Neuron·Amiel A Dror, Karen B Avraham
Feb 14, 2015·Drug Safety : an International Journal of Medical Toxicology and Drug Experience·Geetha Ramachandran, Soumya Swaminathan
Mar 17, 2009·Biochemical and Biophysical Research Communications·H HumanS Bardien
Jul 8, 2016·SpringerPlus·Adebolajo A AdeyemoOlayemi O Omotade
Oct 21, 2016·Expert Opinion on Drug Safety·Anthony J Garcia-PratsAnneke C Hesseling
Jan 5, 2011·Genetic Testing and Molecular Biomarkers·Stefania BertonciniAna Maria López-Parra
Nov 16, 2019·American Journal of Respiratory and Critical Care Medicine·Payam NahidBarbara Seaworth
Jul 12, 2017·Antimicrobial Agents and Chemotherapy·Amber ArnoldThomas S Harrison
Oct 28, 2016·Pharmacogenetics and Genomics·Julia M BarbarinoTeri E Klein
Oct 6, 2021·Human Genetics·Samuel Mawuli AdadeyAmbroise Wonkam

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Methods Mentioned

BETA
PCR
genotyping

Software Mentioned

Primer3
Clustal W
SNaPshot
ABI GeneMapper
Sequencing Analysis
GeneMapper
BioEdit

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