A novel nonsense mutation, S434X,
A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
β Scribed by H. Mittre; J.F. Duhamel; G. Abeguile; M. Lemaire; P. Leymarie
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 9 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
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The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f
## MUTATION NOTES nucleotides downstream the original splice site in intron 3. Assuming that this would be used in the patient as donor splice site, the inclusion of 4 intronic nucleotides, frameshift, and thereby an immediate termination of translation would occur, most likely resulting in a null
In order to determine the molecular defect in the CFTR gene in uncharacterized CF patients from former Yugoslavia, we have employed SSCP analysis of PCR amplified fragments of exon 12 of the CFTR gene (Orita et al., 1989) (primer sequences available on request). A bandshift was detected in a DNA sam