Hearing disability is one of the most common birth defects in China, ranking first among all kinds of disabilities. More than 50% of deafness is caused by genetic factors, among which GJB2 gene is a common deafness genetic gene, which is autosomal recessive. The mutation rate is 20-30% in the deaf population and 3-5% in the normal population. GJB2 gene is an important genetic factor of nonsyndromic deafness. Cochlear implant is the most ideal treatment in clinic. This kit is suitable for the auxiliary diagnosis of the causes of deafness and the detection of deafness gene carrying in the non hearing loss population. Through the detection of 235delc, 299-300delat, 176del16bp, 512insaacg, which are common mutation sites of GJB2 gene, it can be found and treated as early as possible, which is of great significance for the rehabilitation of the patients with congenital deafness.
Fluorescence PCR method
24 per person / box
Using the method of nucleic acid amplification fluorescence detection, we designed highly specific primers according to the gene sequence of deafness related genes, and analyzed whether there were deafness gene mutation sites according to the fluorescence curve mode of nucleic acid amplification, which had the characteristics of 1, fast detection speed (about 1.5h), convenient and fast 2, high accuracy, no false negative 3, separable combination of detection sites 4, comprehensive coverage of detection sites.