Genetic Screening of Deaf Mutation for 2545 Newborn / 中国康复理论与实践

ABSTRACT

Objective:To investigate the mutative rate and spectrum of common hereditary deafness genes in Chinese. Methods:Heel blood samples from 2545 infants born from January to October, 2018, were collected, and screened with microarray chip. Results:There were 119 children with mutation of deafness gene, including 60 cases (2.36%) with GJB2 mutation, male/female = 1∶1 (30/30); 48 (1.88%) with SLC26A4 mutation, male/female nearly 1∶1 (26/22); five (0.20%) with mutation of mitochondrial 12S rRNA gene; five (0.20%) with GJB3 mutation; one (0.04%) with heterozygosis in GJB2 235 and SLC26A4 IVS7-2 mutation. Other more, mutations of 1174A > T, 1229C > T and 15+5G>A of SLC26A4 were found in one child, respectively. Conclusion:The distribution of deafness gene loci has been investigated, which can be reference for prevention and control of hereditary deafness in Chinese.