Analysis common gene mutation spots of 127 non-syndromic deafness natients in Guangxi Drovince / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
; (24): 1954-1958, 2015.
Article
Dans Zh
| WPRIM
| ID: wpr-749122
Responsable en Bibliothèque :
WPRO
ABSTRACT
OBJECTIVE@#To investigate the mutation characteristics of common deafness gene from 127 non-syndromic hearing loss patients in Guangxi province.@*METHOD@#Deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes, and a total of 127 hearing impaired patients were tested. The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations.@*RESULT@#Among the 127 patients with non-syndromic deafness, the total mutation rate is 8.66% (11/127), including GJB2 235delC homozygous in 3 cases (2.36%), 235delC single heterozygous mutation in 2 cases (1.57%), GJB2 235delC and 109 A > G mutations in 2 cases (1.57%); SLC26A4 1229C > T homozygous in 1 case (0.79%), IVS7-2A > G, IVS11 + 47T > C and 15448insC mutaion in 2 cases (1.57%); mitochondrial 12S rRNA gene mutations were not detected. The result indicates that GJB2 and SLC26A4 were the main genes in this study, and the mutation rate is significantly lower than the national average level. Three new mutations (SLC26A4 IVS11 + 47T > C,1548insC and GJB2 109A > G) were found. There may be rare mutations among sites or genes associated with deafness in Guangxi.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Protéines de transport membranaire
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ARN ribosomique
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Analyse de mutations d'ADN
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Chine
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Réaction de polymérisation en chaîne
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Connexines
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Séquençage par oligonucléotides en batterie
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Surdité
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Connexine-26
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Transporteurs de sulfate
Limites du sujet:
Humans
Pays comme sujet:
Asia
langue:
Zh
Texte intégral:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Année:
2015
Type:
Article