Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.
The large heterogeneity in the cystic fibrosis (CF) gene is the main difficulty for genotype characterization. Numerous studies have reported considerable variations in frequencies of CF transmembrane conductance regulator (CFTR) mutations in different populations, such as African, Asian, or European populations. To completely characterize the spectrum of mutations in the CFTR gene in the Réunion Island population, we screened 228 CF chromosomes using denaturing high-pressure liquid chromatography and denaturing gradient gel electrophoresis following by direct sequencing. We identified 27 mutations, accounting for 93% of CF chromosomes. They included three novel mutations (M1T, 3121-3C-->G, and L1324P), which are described in this paper. The detection of such a high proportion of Réunion Island CFTR mutations is important for improving neonatal screening of CF on Réunion Island.
Bienvenu
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Laboratoire de Biochimie Génétique, Hôpital Cochin, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France.
Viel
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Leroy
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Cartault
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Lesure
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Renouil
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D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005828:Genetics, Population; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D011110:Polymorphism, Genetic; D017508:Reunion
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator