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.

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