Screening analysis of deafness gene in neonatus
10.3969/j.issn.1673-4130.2015.10.034
- VernacularTitle:1674例新生儿耳聋基因筛查结果分析
- Author:
Meiqiong HUANG
;
Jingjing GE
;
Guangqing ZHANG
;
Dongxia LIU
- Publication Type:Journal Article
- Keywords:
newborn;
deafness gene;
hearing screening
- From:
International Journal of Laboratory Medicine
2015;(10):1398-1399
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the molecular epidemiology characteristic of neonatal deafness susceptibility genes .Methods Hearing screening and deafness susceptibility genes screening were performed in 1 674 cases of newborn to analyze the epidemiolog‐ical characteristics .Results Among 1 674 cases of neonatus ,37 cases were with deafness susceptibility gene abnormalities ,inclu‐ding 2 cases of 176 del 16 mutations ,5 cases of 299 del AT heterozygous mutation ,16 cases of 235 del C mutation ,9 cases of IVS7‐2A>G heterozygous mutations ,1 case of 2168A> G mutation ,2 cases of 538C> T heterozygous mutation ,2 cases of 1494C> T mutation ,and the positive rate was 2 .21% .Conclusion Hearing screening combined with deafness susceptibility gene screening could detect possible hearing loss children from molecular level ,providing favorable reference for the early detection ,predict and in‐terventions .
