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Novel missense mutation S108F in exon 4 of the CFTR gene by H. H. Seydewitz; H. Müller; I. Witt is a scholarly article available to read on EtoBox.

What is Novel missense mutation S108F in exon 4 of the CFTR gene about?

During the course of screening the DNA of cystic fibrosis patients for the presence of unknown mutations using the single-strand conformational polymorphism (SSCP) technique (Orita et al., 1989) in a modified nonisotopic form on the Pharmacia Phast system as proposed by Dockhorn-Dworniczak et al. (1991), the DNA of a young patient heterozygous for AF508 showed an aberrant band pattern in exon 4. Exon 4 was sequenced by means of an AB1 automatic sequencer 373A using the Dyedeoxy Terminator Sequencing Kit and a Taq Cycling protocol. A transition from C to T in position 455 (numbered according to Riordan et al., 1989), was found that could be confirmed by identifying the corresponding G-to-A transition in the antisense strand. This base exchange leads to stibsritution of serine in position 108 of the CFTR protein by phenylalanine. According to the rules given by Beaudet and Tsui (1993), the mutation should be designated S108F. The patient is a young man who was first diagnosed as having cystic fihrosis at the age of 19. His length is 180 cm and his weight 70 kg. He has a Shwachman clinical score of 75 and a FEV,% of 80%. The chest radiography shows bronchiectatic changes. He is pancre

Author

H. H. Seydewitz; H. Müller; I. Witt

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 1059-7794)

Published

1995

Language

EN