Analysis of deafness gene detection results in 20 patients with sensorineural hearing loss in Yanbian area
OBJECTIVE To investigate the mutation characteristics of deafness gene in patients with sensorineural hearing loss in Yanbian area.METHODS Twenty pedigrees of sensorineural hearing loss patients in Yanbian area were selected,among which 8 pedigrees were the Korean nationality and 12 pedigrees were the Han nationality.Clinical data related to the patient's medical history were collected,and 5 mL of venous blood from each proband was extracted.DNA gene Kit(ClaSeek Ligation Max)was used to detect the deafness gene,and Sanger sequencing method was used to verify the source of the deafness gene from two relatives.RESULTS Among the 20 patients,9 had mutation in SLC26A4,4 had mutation in GJB2,2 had mutation in OTOF and MYO7A,respectively,and 1 had mutation in LARS2,USH2A and DIAPH3,respectively.CONCLUSION SLC26A4 and GJB2 are the main deaf-causing genes in 20 patients,and c.919-2A＞G(IVS7-2A＞G)is a hotspot mutation of SLC26A4,and c.235delC is a hotspot mutation of GJB2.
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