title: Rapid screening for the mitochondrial DNA C1494T mutation in a deaf population in China using real-time quantitative PCR.
abstract: CONCLUSIONS
  Real-time quantitative polymerase chain reaction (qPCR) with a TaqMan minor groove binding (MGB) probe is useful for large-scale screening for the C1494T mutation. The mitochondrial DNA(mtDNA) C1494T mutation has a low carrier frequency in Chinese patients with nonsyndromic hearing loss.
  
  
  OBJECTIVE
  To develop a simple, rapid, and reliable real-time qPCR assay based on TaqMan technology using a new MGB probe for detecting the mtDNA C1494T mutation directly, and to investigate the carrier frequency in nonsyndromic deaf Chinese subjects.
  
  
  METHODS
  A TaqMan-MGB probe was constructed. Peripheral blood samples were collected from 3133 nonsyndromic deaf patients and genomic DNA was extracted. A real-time qPCR using MGB probes (wild-type) in a single tube was used to detect the mtDNA C1494T mutation. The results were then compared to the DNA sequence of the PCR products.
  
  
  RESULTS
  A total of 13 of 3133 (0.4%) Chinese nonsyndromic hearing loss patients were C1494T-positive. The results of the TaqMan-MGB probe method were consistent with those of sequencing.
authors.affiliation: Department of Otolaryngology, Nanjing Children's Hospital, Nanjing Medical University, Jiangsu, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Li
authors.forename: Yong-Yi
authors.initials: YY
authors.lastname: Yuan
authors.forename: De-Liang
authors.initials: DL
authors.lastname: Huang
authors.forename: Dong-Yi
authors.initials: DY
authors.lastname: Han
authors.forename: Pu
authors.initials: P
authors.lastname: Dai
mesh_terms: D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D015994:Incidence; D009154:Mutation; D012335:RNA, Ribosomal / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods*
chemical_list: D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S