First report of cystic fibrosis mutations in Libyan cystic fibrosis patients.
Ann Hum Biol
; 38(5): 561-3, 2011 Sep.
Article
em En
| MEDLINE
| ID: mdl-21329479
ABSTRACT
BACKGROUND:
There are few data on the molecular basis of Cystic Fibrosis (CF) in North Africa, probably due to under-diagnosis.AIM:
This is the first study of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in the Libyan population. SUBJECTS ANDMETHODS:
This study analysed the complete coding region and flanking intronic sequences of the CFTR gene in 10 unrelated Libyan CF patients.RESULTS:
This study identified four mutations (F508del, c.1670delC, N1303K and E1104X), with a high frequency of the latter.CONCLUSION:
Identification of CF mutations facilitates molecular investigation of cystic fibrosis in the Libyan population and helps to provide effective genetic counselling among CF families.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fibrose Cística
/
Mutação
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article