The true panel of cystic fibrosis mutations in the Sicilian population.
BMC Med Genet
; 21(1): 89, 2020 05 01.
Article
em En
| MEDLINE
| ID: mdl-32357917
ABSTRACT
BACKGROUND:
The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population.METHODS:
A longitudinal CFTR screening of 1279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient's blood.RESULTS:
One patient out of 16 was a carrier of a CFTR mutation. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission.CONCLUSIONS:
The risk of CF transmission is unexpectedly high in Sicily and with a high heterogeneity. Sequencing an entire and long gene such as CFTR makes accessible the true panel of mutations in a specific population and helps better to understand the true risk of having an affected child.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Regulador de Condutância Transmembrana em Fibrose Cística
/
Fibrose Cística
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética Populacional
Limite:
Female
/
Humans
/
Male
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article