caa a22 4500 467985421 CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428306 doi (NATIONALLICENCE)springer-10.1007/BF02428306 A 3′ splice site consensus sequence mutation in the cystic fibrosis gene [Elektronische Daten] [H. Guillermit, P. Fanent, C. Ferec] Summary: In the cystic fibrosis (CF) gene, recently cloned, a three base pair deletion (ΔF508) has been identified in a majority of CF patients. This deletion has been found in 80% of CF chromosomes in families from north west Brittany. In order to identify new mutations we have selected 43 chromosomes negative for the three base pair deletion from these families and directly sequenced exon 11 after DNA amplification by the polymerase chain reaction. We have detected a base change (G→A) at the 3′ end of the consensus sequence of intron ten (namely 1717-1). This mutation destroys a splice site in the cystic fibrosis gene which probably produces a mutant allele. This single nucleotide mutation has been reported on two other CF chromosomes. Springer-Verlag, 1990 Guillermit H. Laboratoire de Biogénétique C.D.T.S., F-29200, Brest, France aut Fanent P. INSERM U91, Hôpital H. Mondor, F-94010, Créteil, France aut Ferec C. Laboratoire de Biogénétique C.D.T.S., F-29200, Brest, France aut Human Genetics Springer-Verlag 85/4(1990-09-01), 450-453 0340-6717 85:4<450 1990 85 439 https://doi.org/10.1007/BF02428306 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428306 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Guillermit H. Laboratoire de Biogénétique C.D.T.S., F-29200, Brest, France aut NATIONALLICENCE 700 1- Fanent P. INSERM U91, Hôpital H. Mondor, F-94010, Créteil, France aut NATIONALLICENCE 700 1- Ferec C. Laboratoire de Biogénétique C.D.T.S., F-29200, Brest, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 450-453 0340-6717 85:4<450 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer