2545例新生儿遗传性耳聋基因突变筛查

doi:10.3969/j.issn.1006-9771.2019.04.014

Abstract

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.

Key words: hereditary deafness, newborn, gene, mutation, microarray gene chip, screen

CLC Number:

R764.43

MA Ning, WANG Yan, PENG Wei, LI Hao, YANG Xiao. Genetic Screening of Deaf Mutation for 2545 Newborn[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2019, 25(4): 444-447.

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Genetic Screening of Deaf Mutation for 2545 Newborn

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