Fibrosis Patients From North Eastern Italy: Their Incidence and Clinical Features of Defined G e m

The frequency of 62 different CFTR mutations in 225 chromosomes from a CF birth cohort, which includes all the affected subjects born in northeast Italy during a 10-year period of time, was investigated. New mutations were also searched by the analysis of 15 different exons. The total proportion of CF chromosomes with detectable mutations is 73.78%. Therefore although a considerable improvement in CF mutation detection in our population has been achieved, the search for other common and uncommon mutations should be continued. Moreover a carrier screening program should be postponed until reaching a cumulative proportion of known CF alleles of at least 90%. The correlations between the genotypes which have been identified and the main clinical features added some new information to the classification of CF mutations as pancreatically severe or mild ones.

[1]  P. Pignatti,et al.  Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. , 1992, Journal of medical genetics.

[2]  M. Corey,et al.  Genetic determination of exocrine pancreatic function in cystic fibrosis. , 1992, American journal of human genetics.

[3]  P. Pignatti,et al.  Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations. , 1992, Molecular and cellular probes.

[4]  X. Estivill,et al.  Analysis of 14 cystic fibrosis mutations in five South European populations , 1991, Human Genetics.

[5]  M. Hodson,et al.  Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis , 1990, The Lancet.

[6]  P. Pignatti,et al.  Pancreatic function and gene deletion F508 in cystic fibrosis. , 1990, Journal of medical genetics.

[7]  A. Beaudet,et al.  The American Society of Human Genetics statement on cystic fibrosis screening. , 1990, American journal of human genetics.

[8]  X. Estivill,et al.  ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE , 1989, The Lancet.

[9]  T. Sekiya,et al.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. , 1989, Genomics.

[10]  L. Lerman,et al.  DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory. , 1983, Proceedings of the National Academy of Sciences of the United States of America.

[11]  R E COOKE,et al.  A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. , 1959, Pediatrics.

[12]  J. Riordan,et al.  Identification of the Cystic Fibrosis Gene : Chromosome Walking and Jumping Author ( s ) : , 2008 .

[13]  L. Tsui,et al.  Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium , 1992, Human mutation.

[14]  A. Scialli.  Mendelian inheritance in man: 9th ed. McKusick VA. Baltimore, Maryland, Johns Hopkins University Press; 1990, 2028 pages, $110 , 1991 .

[15]  L. Tsui,et al.  Mutation analysis in cystic fibrosis. , 1990, The New England journal of medicine.

[16]  J. Riordan.  Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA , 1989 .

[17]  B. Kerem.  Identification of the cystic fibrosis gene: genetic analysis , 1989 .