Analysis of 160 CF chromosomes : detection of a novel mutation in exon 20

• Published in: Human genetics Vol. 91; no. 3; pp. 254 - 256
• Main Authors: DORVAL, I, ODENT, S, BLAYAU, M, JEZEQUEL, P, JOURNEL, H, CHAUVEL, B, DABADIE, A, ROUSSEY, M, LE GALL, J. Y, LE MAREC, B, DAVID, V
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-04-1993; Berlin; New York, NY
• Subjects: Adolescent; Base Sequence; Biological and medical sciences; Chromosomes, Human; cystic fibrosis; Cystic Fibrosis - genetics; detection; DNA, Single-Stranded; Exons; Gastroenterology. Liver. Pancreas. Abdomen; genes; Humans; Infant; Liver. Biliary tract. Portal circulation. Exocrine pancreas; man; Medical sciences; Molecular Sequence Data; Mutation; Other diseases. Semiology; Polymorphism, Restriction Fragment Length; Human; Polymerase chain reaction; Mucoviscidosis; Nucleotide sequence; Respiratory disease; Gel electrophoresis; Digestive diseases; Mutation; Molecular biology; Genetic disease; Pancreatic disease
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/BF00218266

The cystic fibrosis (CF) gene has been cloned and a major mutation identified (delta F508). This 3-bp deletion has been found in approximately 70% of CF chromosomes. We have used the strategy of denaturing gradient gel electrophoresis followed by direct sequencing of the polymerase chain reaction products, in order to detect other mutations in exons 10, 11 and 20 of the CF transmembrane conductance regulator gene. A new mutation, F1286-S, was found in exon 20. It involves a nucleotide change of T-->C at nucleotide 3989 and changes a phenylalanine into serine at position 1286 of the protein.