Analysis and prenatal diagnosis of deafness-related gene mutations in patients with nonsyndromic hearing loss / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 553-556, 2014.
Article
de Zh
| WPRIM
| ID: wpr-291732
Bibliothèque responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze deaf-related genes in patients with nonsyndromic hearing loss (NSHL) and set up a prenatal diagnosis system for such patients.</p><p><b>METHODS</b>Nine NSHL families were collected. Potential mutations of GJB2 (35delG, 176del16, 235delC, 299delAT), SLC26A4 (2168A> G, IVS7-2A> G), GJB3 (538C> T) and mtDNA (1494C> T, 12S rRNA 1555A> G) were detected by direct sequencing. Maternal blood contamination was excluded prior to the testing.</p><p><b>RESULTS</b>Sixteen patients from 4 families were detected with GJB2 mutations, 8 patients from 2 families were found with SLC26A4 mutations, and 4 patients from 2 families were found with mutations in mtDNA. For 2 patients from one remaining family, no mutations were found with above genes.</p><p><b>CONCLUSION</b>A diagnostic system for NSHL has been established, which may provide a basis for prenatal diagnosis and genetic counseling to NSHL families.</p>
Texte intégral:
1
Base de données:
WPRIM
Sujet principal:
Pedigree
/
Protéines de transport membranaire
/
Diagnostic prénatal
/
ADN mitochondrial
/
ARN ribosomique
/
Analyse de mutations d'ADN
/
Données de séquences moléculaires
/
Chimie
/
Santé de la famille
/
Reproductibilité des résultats
Type d'étude:
Diagnostic_studies
Limites:
Female
/
Humans
/
Male
/
Pregnancy
Langue:
Zh
Journal:
Chinese Journal of Medical Genetics
Année:
2014
Type de document:
Article