Article
Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.
American journal of medical genetics. Part A - 30 Jul 2005
Quint Adina, Lerer Israela, Sagi Michal, Abeliovich Dvorah
Abstract excerpt
We have tested 144 unrelated Jewish patients suffering from the classical form of cystic fibrosis. The patients were screened for a panel of 12 mutations including the six Ashkenazi founder mutations (DeltaF508, W1282X, N1303K, G542X, 3849 + 10 kb C-->T, 1717-1G > A) and six mutations that were found in non-Ashkenazi Jewish patients (S549R (T-->G), G85E, 405 + 1G-->A, W1089X, Y1092, and D1152H). Patients of...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Genetic Carrier Screening
- Greece
- Humans
- Iran
- Iraq
- Israel
- Jews
- Morocco
- Mutation
- Polymorphism, Single-Stranded Conformational
- Tunisia
- Turkey
- Yemen