Abstract
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 hearing 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, tRNA Ser(UCN) 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, re spectively. The results indicate the necessity of genetic screening for mutations of these causative genes in Chi nese population with nonsyndromic hearing loss.
Highlights
Hearing loss is the most common sensory disorder in humans
There are more than 150 genetic loci that have been described for nonsyndromic sensorineural hearing loss (NSHL) in humans, and about 60 of them were cloned
After the systematic comparison of various genes in different countries or ethnic differences between the mutation frequencies, we calculated the average frequency of GJB2, GJB3, GJB6, SLC26A4 and mtDNA
Summary
Profound hearing loss affects approximately one in 1,000 live births in the general population, and 50%-60% of these cases have genetic etiologies[1]. Corresponding authors: Qinjun Wei, Ph.D., Department of Biotechnology, Nanjing Medical University, 140 Hanzhong Road, Nanjing, Jiangsu 210029, China, Tel(Fax): +86-25-86862837. These authors reported no conflict of interests. It is believed that alterations in several members of the connexin protein family, mutations in the solute carrier 26 (SLC26) family and in the mitochondrial DNA (mtDNA) contribute to the development of the majority of genetic hearing losses[2-8]. IVS2-2A>G and mitochondrial genes to determine the etiology of hearing loss in eastern China. (GenBank Accession No AC 005064), and mtDNA (GenBank accession No NC_001807.4) gene sequences to identify the mutations
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