Hearing loss is the most frequent sensory disorder involving a multitude of factors, and at least 50% of cases are due to genetic etiology. To further characterize the molecular etiology of heating loss in the Chinese...Hearing loss is the most frequent sensory disorder involving a multitude of factors, and at least 50% of cases are due to genetic etiology. To further characterize the molecular etiology of heating loss in the Chinese population, we recruited a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss （NSHL） for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-2A〉G and mitochondrial 12SrRNA, tRNASer（t/CN） by PCR amplification and direct DNA sequencing. The carrier frequencies of deafness-causing mutations in these patients were 35.55% in GJB2, 3.70% in GJB6, 15.56% in SLC26A4 and 8.14% in mitochondrial 12SrRNA, respectively. The results indicate the necessity of genetic screening for mutations of these causative genes in Chinese population with nonsyndromic heating loss.展开更多
基金supported by the Research Grant Award from the National Natural Science Foundation of China (No.31171217)the Open Research Grant of Medical Key Department (No.XF200719) from Jiangsu Province (No.KF200910)Technology Developmental Program from Nanjing Medical University (No.09NJMUM005)
文摘Hearing loss is the most frequent sensory disorder involving a multitude of factors, and at least 50% of cases are due to genetic etiology. To further characterize the molecular etiology of heating loss in the Chinese population, we recruited a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss （NSHL） for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-2A〉G and mitochondrial 12SrRNA, tRNASer（t/CN） by PCR amplification and direct DNA sequencing. The carrier frequencies of deafness-causing mutations in these patients were 35.55% in GJB2, 3.70% in GJB6, 15.56% in SLC26A4 and 8.14% in mitochondrial 12SrRNA, respectively. The results indicate the necessity of genetic screening for mutations of these causative genes in Chinese population with nonsyndromic heating loss.
