Genetic Screening of Deaf Mutation for 2545 Newborn
10.3969/j.issn.1006-9771.2019.04.014
- VernacularTitle:2545例新生儿遗传性耳聋基因突变筛查
- Author:
Ning MA
1
;
Yan WANG
1
;
Wei PENG
1
;
Hao LI
1
;
Xiao YANG
1
Author Information
1. Bayi Children’s Hospital, The Seventh Medical Center of PLA General Hospital, Beijing 100700, China
- Publication Type:Research Article
- Keywords:
hereditary deafness;
newborn;
gene;
mutation;
microarray gene chip;
screen
- From:
Chinese Journal of Rehabilitation Theory and Practice
2019;25(4):444-447
- CountryChina
- Language:Chinese
-
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.
