Abstract: Objective: To analyze the mutation rate of the deafness related genes in newborns, and to construct a database which provide reliable data for clinical diagnosis and genetic counseling. Methods：Blood samples of 6 945 newborns were collected from the heel on the Day 3 after birth in our center with the informed consent. Mutations of the deafness related genes were detected by the fluorescent PCR. 5 mutation sites in 3 genes, including GJB2 （235delC）, SLC26A４ （IVS7-2A＞G, 2168A＞G）, mitochondrial DNA12S rRNA （1494C＞T, 1555A＞G） were tested. Results：There were 239 neonates who carried mutations （239/6 945, 3.44%）. 114 （１．６４％） ｎｅwborns carried heterozygous mutations and １ （０．０１％） homogeneous mutation of GJB2 （235delC）; 97 （１．４０％） neonates carried heterozygous mutations and １（０.01%） homogeneous mutation of SLC26A4 （IVS7-2A＞G); and 14 (0.2%) newborns carried heterozygous mutations of SLC26A4 （２168A＞G）. There were 9 and 2 neonates who carried homogeneous and heterogeneous mutation of mitochondrial 12S rRNA gene （0.13% and 0.03％）． One newborn was found to carry 3 heterozygous mutations of 235delC, IVS7-2A＞G and 1555A＞G. Conclusions：The main mutational patterns of newborns were 235delC of GJB2 gene and IVS7-2A＞G of SLC26A4 gene in our center. The detection of deafness genes in newborns is helpful to investigate the carrier rate, which provides an academic guidance for local sound child rearing.

Key words: Genetic diseases, inborn, Infant, newborn, Hearing loss, Genetic screening, Polymerase chain reaction, Epidemiologic studies