Application of DNA Microarray in Rapid Genetic Diagnosis of Nonsyndromic Hearing Loss

  Objective  To evaluate the feasibility of DNA microarray as a rapid genetic diagnosis technique in nonsyndromic hearing loss.

  Methods  Totally 133 patients with profound nonsyndromic sensorineural hearing loss admitted to the Department of Otorhinolaryngology of Peking Union Medical College Hospital were enrolled in this study. Their peripheral blood samples were taken and tested using Hearing Loss Array Kit (gene chip). Nine hot mutation sites including GJB2 (35 del G, 176 del 16, 235 del C, 299 del AT), GJB3 (538C > T), SLC26A4 (IVS7-2A > G, 2168A > G), and mitochondrial 12S rRNA (1494C > T, 1555A > G) were detected. Accuracy of the detection results was tested by DNA sequence analysis with PCR.

  Results  The positive rate of GJB2, GJB3, SLC26A4, and mitochondrial 12S rRNA gene were 20.3%, 0, 21.8%, and 1.5%, respectively, and the overall positive rate in this cohort was 43.6%. DNA sequence analysis showed 100% coincidence with DNA microarray results.

  Conclusions  The Hearing Loss Array Kit has a high positive detection rate. It is characterized by being rapid high-flux sensitive, high specific, and easy to judgment, which make it possible and promising in future screening and diagnosis in patients with sensorineural hearing loss.