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Screening analysis of deafness gene in neonatus / 国际检验医学杂志
Article de Zh | WPRIM | ID: wpr-465017
Bibliothèque responsable: WPRO
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 .
Mots clés
Texte intégral: 1 Indice: WPRIM Type d'étude: Diagnostic_studies / Prognostic_studies / Screening_studies langue: Zh Texte intégral: International Journal of Laboratory Medicine Année: 2015 Type: Article
Texte intégral: 1 Indice: WPRIM Type d'étude: Diagnostic_studies / Prognostic_studies / Screening_studies langue: Zh Texte intégral: International Journal of Laboratory Medicine Année: 2015 Type: Article