The Identification of the Cf (Cystic Fibrosis) Gene: Recent Progress and New Research Strategies

ISBN-13: 9781468459364 / Angielski / Miękka / 2013 / 409 str.

Lap-Chee Tsui

Opis

Seven months after the report of the cloning of the CF gene by three North American groups, a workshop scheduled before that report was held in sestri Levante, a splendid city on the Ligu- rian coast. For three days almost 100 scientists from Europe and North America had the opportunity to discuss the perspectives and the new research strategies opened up by the cloning of the gene. The issue of publishing these proceedings was discussed at length among the invited speakers of the workshop and the pre- vailing opinion was that they would be worthwhile if accompanied by the transcripts of the discussions which followed each pre- sentation. Thanks to the generous suppport of the Menarini Foun- dation, represented at the meeting by Dr. Sergio Gorini, and thanks to the reviewing work done by the Chairpersons of each session, by many participants, by Dr. Donata Brugioni, by Mrs. Katherine Loparco and by my collaborators Drs. Marcella Devoto and Luis J. V. Galietta, that idea has generated this book, which should be a helpful tool at least for some years for all those interested in understanding how the CFTR gene works. Prof. G. Romeo CONTENTS Cystic Fibrosis - A Strategy for the Future -. . . . . . . . . . . . . . -. 1 R. Williamson Molecular Genetics of cystic Fibrosis . . . . . . . . . -. . . . . . . . . . -. . 9 L. -C. Tsui, J. Rommens, B. Kerem, R. Rozmahel, J. Zielenski, D. Kennedy, D. Markiewicz, N. Plavsic, J. -L. Chou, D. Bozon and M.

Spis treści

Cystic Fibrosis — A Strategy for the Future.- Molecular Genetics of Cystic Fibrosis.- The CF Gene Product as a Member of a Membrane Transporter (TM6-NBF) Super Family.- Genetic Analysis of Cystic Fibrosis.- Molecular and Genetic Analyses at the CF Locus.- Identification of Cystic Fibrosis Mutations.- Mutation Analysis for Cystic Fibrosis in a North American Population.- Toward a Geographical History of the Predominant and Secondary Mutations in Europe.- Origin and Diffusion of the Major CF Mutation in Europe.- Present State of DNA-Diagnosis for Cystic Fibrosis and Attitudes Concerning a Heterozygote Screening in the GDR.- Pros and Cons of Neonatal Screening for Cystic Fibrosis.- Genotype-Phenotype Correlations in Cystic Fibrosis Patients.- Ion Transport in Normal and CF Airway Epithelia.- Aerosolized Amiloride as Treatment of Cystic Fibrosis Lung Disease: A Pilot Study.- Some Properties of Sodium and Chloride Channels in Respiratory Epithelia of CF- and Non-CF-Patients.- Roles of Ca and cAMP on Cl Channel Activity in Cystic Fibrosis Sweat Clear Cells as Studied by Microsuperfusion and Cell Volume Analysis.- Regulation of Absorption in the Human Sweat Duct.- Altered Biochemical Regulation of Secretion in Cystic Fibrosis Epithelial Cells.- Chloride Ion Transport in Transformed Normal and Cystic Fibrosis Epithelial Cells.- Conductance Pathways Involved in Chloride Secretion and Their Regulation.- Regulation of Epithelial Chloride Channels: Roles of Protein Kinases and Arachidonic Acid.- Cytosolic Inhibition and Excision Activation of Epithelial Chloride Channels.- Purification of the Epithelial Cl Channel.- Regulation of Expression of CFTR in Human Intestinal Epithelial Cells.- Cystic Fibrosis, the CFTR, and Rectifying Cl- Channels.- Regulation of Ion Conductance in Human Skin Fibroblasts.- Chloride Transport in the Cystic Fibrosis Enterocyte.- Chloride Transport Pathways in Human Keratinocytes.- A Chloride Conductance Evoked by Hypotonic Shock in Epithelial Cells.- Regulation of Lymphocyte Chloride Channels.- Guanine Nucleotide Binding Proteins Regulate Epithelial Na+ Channels.- Attitudes of Parents of Cystic Fibrosis Children Towards Neonatal Screening and Antenatal Diagnosis.- DNA Analysis in CF Families by Biotinylated Probes and Polymerase Chain Reaction Technique.- Prevalence of the Major Mutation of the CF Gene in Belgian Patients.- Cystic Fibrosis in the Sicilian Population: Linkage Disequilibrium and Prenatal Diagnosis by Polimerase Chain Reaction.- Study of Reconstitution of the Rabbit Parotid Na+/K+/2Cl-Cotransporter.- Human Placental Membrane Vesicles as Models for Investigation of Cystic Fibrosis.- The DeltaF508 Mutation in Israeli CF Families.- The DeltaF508-Deletion in 99 CF Patients of Switzerland.- The Prevalence of the Deletion F508 in a Belgian Cystic Fibrosis Population.- Cystic Fibrosis Delta F508 Mutation in a French Population.- Frequency of the Delta-F508 Mutation and Flanking Marker Haplotypes at the Cystic Fibrosis Locus from 167 Czech Families.- The Response of Chloride Transport to Cyclic AMP, Calcium and Hypotonic Shock in Normal and Cystic Fibrosis Fibroblasts.- 2D-Electrophoresis of Mitochondrial Proteins from Cystic Fibrosis Patients.- Frequency of Cystic Fibrosis Mutations and Associated Haplotype Distribution in Slovak CF Patients.- Frequency of Cystic Fibrosis Mutations Among Italian Patients.- Cultured Human Placental Trophoblasts as Models for Investigating Defective Regulation of Chloride Transport and Protein Secretion in Cystic Fibrosis.- A Deletion Mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Locus: DeltaI507.- DNA Technology for Prenatal Diagnosis of Cystic Fibrosis in Italy.- Incidence of Cystic Fibrosis at the Faroe Islands.