Analysis of deafness-related gene mutations in 100 non-syndromic hearing loss patients in Henan province / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
;
(24): 1959-1962, 2015.
Article
Dans Chinois
| WPRIM
| ID: wpr-749121
ABSTRACT
OBJECTIVE@#To preliminarily determine the gene mutation frequency and the hotspots in Henan province, we analysed the deafness-related gene mutation in patients with non-syndromic hearing loss (NSHL).@*METHOD@#Genomic DNA samples of 100 patients with NSHL in Henan province were extracted from peripheral blood after clinical history inquiry and clinical examination, Four common deafness genes GJB2, SLC26A4, mitochondrial 12SrRNA, and GJB3 were detected by Sanger sequencing method,and then data analysis were conducted.@*RESULT@#Among 100 patients with NSHL. the gene mutation frequency was 44%. In these patients, 29 cases had GJB2 mutations, 13 cases had SLC26A4 gene mutations, and 3 cases had mitochondrial 12SrRNA mutations.@*CONCLUSION@#Among the patients with NSHL in Henan province, the most frequent mutation causing hereditary deafness was mutation in GJB2, followed by SLC26A4,and it will provide a theoretical basis to determine the etiology of deafness in Henan Province.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Protéines de transport membranaire
/
ADN mitochondrial
/
ARN ribosomique
/
Analyse de mutations d'ADN
/
Chine
/
Connexines
/
Surdité
/
Connexine-26
/
Transporteurs de sulfate
/
Fréquence d'allèle
Limites du sujet:
Humains
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Année:
2015
Type:
Article
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