关键词: 新生儿, 耳聋基因, 突变

Abstract: Objective To understand the carrying rate and mutation of the gene of neonatal deafness in this area,and to analyze the difference of the gene carrying rate between high risk neonates and normal newborns.Method Application time of flight mass spectrometry,20 hot spot mutations of GJB2,SLC26A4,GJB3,mitochondria 12SrRNA four common deafness susceptibility genes were detected in 2 029 newborns. Results Among 2 029 newborns:400 cases of high risk infants,1 629 cases of normal newborns;101 newborns positive of gene screening:16 cases (4%) were found in high risk infants,and 85 cases (5.22%) were found in normal newborns.59 newborns were found with GJB2 gene mutation(2.91%).28 newborns were found with SLC26A4 gene mutation(1.38%).12 newborns were found with GJB3 gene mutation(0.60%).2 newborns were found with mitochondrial 12SrRNA gene mutation (0.10%). Conclusions Among the newborns without family history of hearing loss in this area,GJB2 and SLC26A4 gene mutation rates are higher,GJB3 and mitochondria 12SrRNA gene mutation are rare.There is no significant difference in the rate of deafness gene carrying rate between high risk neonates and normal neonates.

Key words: newborns, deafness gene, mutation