Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency |
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| Authors: | Maurizio Ferrari Mariano Antonelli Fiorenza Bellini Graziella Borgo Ornella Castiglione Lauretta Curcio Bruno Dallapiccola Marcella Devoto Xavier Estivill Paolo Gasparini Annamaria Giunta Lore Marianelli Gianni Mastella Giuseppe Novelli Pierfranco Pignatti Luca Romano Giovanni Romeo Manuela Seia Robert Williamson |
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| Institution: | (1) Istituto Scientifico Ospedale San Raffaele, Laboratorio Centrale, Via Olgettina, 60, I-20132 Milan, Italy;(2) I Clinica Pediatrica, Università di Roma, Viale Regina Elena, 324, I-00161 Rome, Italy;(3) Istituti Clinici di Perfezionamento, Radiologia Pediatrica and Laboratorio di Ricerche Cliniche and Clinica Pediatrica II, Università di Milano, Via Commenda, 9, I-20122 Milan, Italy;(4) Centro Fibrosi Cistica, Ospedale Borgo Trento and Istituto di Scienze Biologiche, Università di Verona, I-37100 Verona, Italy;(5) Dipartimento di Pediatria, Università di Napoli, Via Pasini, 5, I-80131 Naples, Italy;(6) Dipartimento di Sanità Pubblica e Biologia Cellulare, II Università di Roma, I-00100 Rome, Italy;(7) Clinica Pediatrica I and Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Via V Maggio, 39, I-16147 Genoa, Italy;(8) Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Norfolk Place, W2 1PG London, UK;(9) I Clinica Pediatrica, Università di Firenze, I-50100 Florence, Italy;(10) Cattedra di Genetica, Università di Urbino, Via Saffi, 2, I-61029 Urbino, Italy |
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| Abstract: | Summary To determine the number and frequency of mutations that occur at the cystic fibrosis locus (CF), we have examined the allele and haplotype frequencies of eight polymorphic DNA markers linked to CF in 163 Italian patients who were sub-divided according to their clinical presentations. The distribution of haplotypes for the tightly linked polymorphisms KM.19 and XV-2c differ significantly between patients with and those without pancreatic insufficiency. The haplotype found most commonly in CF chromosomes occurs much more frequently in pancreatic insufficient than in pancreatic sufficient patients. Among the 19 pancreatic sufficient patients, 6 (31.6%) show at least one copy of the rare KM.19 = 1, XV-2c = 2 haplotype, as against 16 of 138 patients (11.6%) with pancreatic insufficiency. In addition, only 5 pancreatic sufficient patients (26.3%) are homozygous for the common 2,1 haplotype, as compared with 88 patients (63.8%) with pancreatic insufficiency. These findings support the hypothesis of allelic heterogeneity at a single locus in CF and suggest that different mutations underlie the presence or absence of pancreatic insufficiency in this disorders. |
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