Publisher: Karger
E-ISSN: 1423-0062|49|2|81-84
ISSN: 0001-5652
Source: Human Heredity, Vol.49, Iss.2, 1999-03, pp. : 81-84
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Abstract
The spectrum of cystic fibrosis (CF) mutations in the North African population remains poorly known. In order to offer an effective diagnostic service and to determine accurate risk estimates, we decided to identify the CF mutations in 10 Algerian CF families. We carried out a chemical-clamp denaturing gradient gel electrophoresis analysis of the CFTR gene and automated direct DNA sequencing. We identified 5 mutations and we characterized 60% of the CF chromosomes. Taking advantage of the homogeneity of the sample, we report clinical features of homozygous CF patients.
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