Screening analysis of deafness gene in neonatus / 国际检验医学杂志
International Journal of Laboratory Medicine
;
(12): 1398-1399, 2015.
Article
Dans Chinois
| WPRIM
| ID: wpr-465017
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 .
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Etude diagnostique
/
Étude pronostique
/
Étude de dépistage
langue:
Chinois
Texte intégral:
International Journal of Laboratory Medicine
Année:
2015
Type:
Article
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