Detection of hereditary hearing loss gene by DNA microarray.

OBJECTIVE Screening genes in patients suffering clinically sporadic deafness, using DNA microarray, and evaluating the application value of the clinical detection. PATIENTS AND METHODS DNA extracted from patients' venous blood was amplified by PCR, and hybridization was carried out in a myriad class clean room. Nine mutation sites of four deaf genes commonly seen in Chinese people were tested. RESULTS Among 24 patients, 7 cases with mutations were detected, with a positive rate of 29.17%. These include 4 cases with GJB2 gene mutation (16.67%), of which 1 case with 176 del 16 site heterozygous mutation; 1 with 235 del C site homozygous mutation; 2 with 299 del AT site heterozygous mutation; 1 with SLC26A4 gene IVS7-2A>G site heterozygous mutation (4.17%), 2 with mitochondrion 12SrRNA gene1555A>G site homogeneous mutation (8.33%). No GJB3 gene mutation was detected. CONCLUSIONS Gene chip technology of hereditary hearing loss can detect related mutation sites of hearing loss rapidly and with high-throughput, which meets the demands of clinical deaf gene detection.