BIOMAT Database Logo BIOMAT Database Logo

Rapid identification of aminoglycoside-induced deafness gene mutations using multiplex real-time polymerase chain reaction. 2015

Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Department of Otolaryngology, PLA General Hospital, Do. 28 Fuxing Rode, Beijing 100853, People's Republic of China.

BACKGROUND Exposure to aminoglycoside antibiotics can induce ototoxicity in genetically susceptible individuals carrying certain mitochondrial DNA (mtDNA) mutations (C1494T and A1555G), resulting in hearing loss. So, a rapid diagnostic approach is needed to accurately identify subjects carrying such gene mutations. METHODS In the present study, we describe a rapid and reliable four-color, real-time quantitative polymerase chain reaction (qPCR) assay for simultaneously detecting two mtDNA 12S rRNA gene variants, A1555G and C1494T, which are prevalent in the Han Chinese population. This multiplex assay incorporates three allele-specific TaqMan probes labeled with different fluorophores in a single reaction, providing high genotyping accuracy for clinical blood samples. RESULTS Tests with C1494T, A1555G and wild-type DNA exhibited high sensitivity, specificity, reproducibility and accuracy of discriminating mutations from wild-type. CONCLUSIONS This study shows that this simple and inexpensive method can be used for routine molecular diagnostics and potentially for large-scale genetic screening.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D004272 DNA, Mitochondrial Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins. Mitochondrial DNA,mtDNA
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006319 Hearing Loss, Sensorineural Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. Deafness Neurosensory,Deafness, Neurosensory,Deafness, Sensoryneural,Neurosensory Deafness,Sensorineural Hearing Loss,Sensoryneural Deafness,Cochlear Hearing Loss,Hearing Loss, Cochlear,Deafnesses, Neurosensory,Deafnesses, Sensoryneural,Neurosensory Deafnesses,Sensoryneural Deafness,Sensoryneural Deafnesses
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012335 RNA, Ribosomal The most abundant form of RNA. Together with proteins, it forms the ribosomes, playing a structural role and also a role in ribosomal binding of mRNA and tRNAs. Individual chains are conventionally designated by their sedimentation coefficients. In eukaryotes, four large chains exist, synthesized in the nucleolus and constituting about 50% of the ribosome. (Dorland, 28th ed) Ribosomal RNA,15S RNA,RNA, 15S
D012680 Sensitivity and Specificity Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed) Specificity,Sensitivity,Specificity and Sensitivity
D015203 Reproducibility of Results The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results. Reliability and Validity,Reliability of Result,Reproducibility Of Result,Reproducibility of Finding,Validity of Result,Validity of Results,Face Validity,Reliability (Epidemiology),Reliability of Results,Reproducibility of Findings,Test-Retest Reliability,Validity (Epidemiology),Finding Reproducibilities,Finding Reproducibility,Of Result, Reproducibility,Of Results, Reproducibility,Reliabilities, Test-Retest,Reliability, Test-Retest,Result Reliabilities,Result Reliability,Result Validities,Result Validity,Result, Reproducibility Of,Results, Reproducibility Of,Test Retest Reliability,Validity and Reliability,Validity, Face
D060885 Multiplex Polymerase Chain Reaction Methods for using more than one primer set in a polymerase chain reaction to amplify more than one segment of the target DNA sequence in a single reaction. Multiplex Ligation-Dependent Probe Amplification,Multiplex PCR,Triplex PCR,Triplex Polymerase Chain Reaction,Multiplex Ligation Dependent Probe Amplification,PCR, Multiplex,PCR, Triplex

Related Publications

Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Rapid detection of mutations in the BRAF gene using real-time polymerase chain reaction and melting curve analysis.
February 2004, Cancer genetics and cytogenetics,
Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Identification of dermatophytes using multiplex polymerase chain reaction.
August 2011, Annals of dermatology,
Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Rapid analysis of XRCC1 polymorphisms using real-time polymerase chain reaction.
January 2006, Molecular and cellular probes,
Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Real-Time Detection of Viroids Using Singleplex and Multiplex Quantitative Polymerase Chain Reaction.
January 2022, Methods in molecular biology (Clifton, N.J.),
Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Multiplex Solid-Phase Real-Time Polymerase Chain Reaction without DNA Extraction: A Rapid Intraoperative Diagnosis Using Microvolumes.
May 2021, Ophthalmology,
Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Rapid and inexpensive species differentiation using a multiplex real-time polymerase chain reaction high-resolution melt assay.
May 2016, Analytical biochemistry,
Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Identification of Francisella tularensis using real-time fluorescence polymerase chain reaction.
April 2004, Military medicine,
Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction.
May 2005, Human genetics,
Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Rapid detection of SAG 926delA mutation using real-time polymerase chain reaction.
December 2006, Molecular vision,
Shasha Huang, and Guangxin Xiang, and Dongyang Kang, and Chen Wang, and Yanling Kong, and Xun Zhang, and Shujian Liang, and Keith Mitchelson, and Wanli Xing, and Pu Dai
Comparison of real-time polymerase chain reaction and conventional polymerase chain reaction methods for the rapid identification of Bacillus anthracis.
July 2007, Military medicine,
Copied contents to your clipboard!