Annals of human biology · 2011
First report of cystic fibrosis mutations in Libyan cystic fibrosis patients.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Hadj Fredj Sondess, Fattoum Slaheddine, Chabchoub Abdelraouf, Messaoud Taieb
Аннотация
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 AND METHODS: 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.
AIM: This is the first study of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in the Libyan population.
SUBJECTS AND METHODS: 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.