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Abstract Objective: To analyze the hot gene mutation of drug sensitivity deafness (12S rRNA) of newborn from Jincheng area, Shanxi province, which including 1555 A>G and 1494 C >T site. Method: A total of 40240 specimens of neonatal dried blood spots made from heel blood were collected from Jincheng area. The mutation sites of 12S rRNA gene were detected by low density gene chips diversion hybrid platform after the whole genome DNA had been abstracted and PCR amplified. Results: Of 40240 neonates, 135 neonates were the carriers with 12S rRNA mutation (3.4‰), and 133 neonates were found carrying 1555 A>G (mutation rate was 3.3‰), which included 47 neonates (4.5‰) from Gaoping city. Mutation with 1494 C>T was only 2 cases (0.05‰). Conclusion: Jincheng area, especially Gaoping city was the area with high mutation rate of drug sensitivity deafness gene 12S rRNA when compared to the level of China, which perhaps is relate to the local environment. The mutation hot site is mainly 1555 A>G, but 1494 C>T is rare.
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