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Deafness is a common clinical condition and is caused by hereditary factors in about 50% of cases. Its main modes of inheritance are autosomal recessive, autosomal dominant, sex-linked and mitochondrial. The four deafness-related genes commonly found in Chinese are GJB2, GJB3, SLC26A4, and mitochondrial 12S rRNA, and the deafness caused by these four genes accounts for about 80% of the overall genetic deafness.
Currently, the clinical methods used for deafness gene mutation detection include fluorescence polymerase chain reaction (PCR), gene chip hybridization, Sanger sequencing, and second generation sequencing.
Mutaiton: c.235delC, c.35insG
Sample Type: | gDNA |
Storage: | Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.0 |
Concentration: | 50 ng/μL |
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