Analysis of result of gene screening of neonatal deafness in Huizhou and surrounding urban areas / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1176-1179, 2021.
Article
Dans Chinois
| WPRIM
| ID: wpr-922018
ABSTRACT
OBJECTIVE@#To detect common pathogenic variants associated with congenital deafness among neonates from Huizhou and surrounding areas and discuss its implications.@*METHODS@#Thirteen hot-spot mutations in four most common pathogenic genes were screened among 20 934 neonates from March 2017 to December 2019.@*RESULTS@#In total 760 neonates were found to carry common pathogenic variants (3.63%). Sixty two neonates have carried homozygous/compound heterozygous variants or homoplasmy/heteroplasmy mutations of mtDNA (0.29%). Further analysis of five abnormal cases revealed that 3 of them have carried compound heterozygous mutations of GJB2 gene, and 2 were due to compound heterozygous variants of the CDH23 gene.@*CONCLUSION@#Genetic testing has a great clinical significance for the prevention and reduction of congenital hearing loss, but the scope needs to be updated and redefined by removing mutation sites with a very low rate, adding new significant sites, and improvement of the technical strategies.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Analyse de mutations d'ADN
/
Dépistage génétique
/
Dépistage néonatal
/
Connexines
/
Surdité
/
Connexine-26
/
Perte d'audition
/
Mutation
Type d'étude:
Etude diagnostique
/
Étude de dépistage
Limites du sujet:
Humains
/
Nouveau-né
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2021
Type:
Article
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