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Multimutational Analysis of Eleven Cystic Fibrosis Mutations Common in the Mediterranean Areas

¹ Servicio de Bioquímica, Hospital Universitario San Cecilio, Granada, Spain;² Departamento de Bioquímica y Biología Molecular, Universidad de Granada, Granada, Spain;³ Servicio de Inmunología, Hospital 12 de Octubre, Madrid, Spain;⁴ Instituto de la Recerca Oncologica (IRO), Hospital Duran I Reynals, Barcelona, Spain;

^aaddress correspondence to this author at: Servicio de Bioquímica, Hospital Universitario San Cecilio, Avda. Dr. Oloriz s/n, Granada 18012, Spain; fax 34-958249015, e-mail efarez@ugr.es

The first 300 words of the full text of this article appear below.

Since the initial characterization of the predominant mutation (F508) in cystic fibrosis (CF), more than 1000 pathogenic mutations and numerous polymorphisms have been identified in the CFTR gene (1). The frequencies and types of CFTR mutations vary according to the geographic and ethnic origins of the population under study. A recent worldwide survey revealed great mutational heterogeneity for CF in the Mediterranean region (2). Spain may have the highest heterogeneity of CF mutations among Mediterranean countries, with more than 75 different mutations detected, representing 90.2% of the CF chromosomes (3). On the other hand, only 10 mutations had a frequency higher than 1%, and these accounted for 74.2% of the CF chromosomes studied.

Among the 75 different CFTR mutations detected to date in Spain, 56 are not included in the commercial Applied Biosystems assay, which may account for the numerous uncharacterized CFTR alleles in a previous study in Southern Spain (4). We attempted to solve this analytical problem by developing a PCR method that uses fluorescent detection and capillary electrophoresis to detect 11 of the most frequent CFTR mutations not included in the Applied Biosystems assay. If used in conjunction with the Applied Biosystems assay, our novel PCR technique could increase the rate of CF allele detection among European populations.

Mutations in the CFTR gene were studied in 140 samples from patients diagnosed with CF at the 12 de Octubre Hospital (Madrid, Spain) or the IRO, Hospital Duran I Reynals (Barcelona, Spain), and from patients with suspicion of CF referred to the Hospital Universitario "San Cecilio" (Granada, Spain). Human genomic DNA was extracted from whole-blood samples by use of a QIAamp® Blood Mini Kit (Qiagen). The DNA concentrations in samples were determined spectrophotometrically by use of a UV-1603 Shimadzu spectrophotometer.

Oligonucleotide . . . [Full Text of this Article]