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| THE STOP MUTATION R553X IN THE CFTR GENE RESULTS IN EXON SKIPPING |
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| Author(s): HULL J, SHACKLETON S, HARRIS A |
| Source: GENOMICS Volume: 19 Issue: 2 Pages: 362-364 Published: JAN 15 1994 |
| Times Cited: 32 References: 14 |
| Abstract: Stop or nonsense mutations are known to disrupt gene function in a number of different ways. We have studied the effects of the stop mutation R553X in exon 11 of the CFTR gene by analyzing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis. Four patients who were compound heterozygotes for the R553X mutation were studied. Ten non-CF control subjects were also studied. In all four patients, full-length CFTR mRNA was identified, but only a very small proportion of this was derived from the R553X allele. A smaller transcript, lacking exon 11, was also seen in the R553X patients but not in the controls. Most of this transcript was derived from the R553X allele. These results suggest that the R553X mutation results in skipping of the exon in which it is located. (C) 1994 Academic Press, Inc. |
| Document Type: Note |
| Language: English |
| Reprint Address: HULL, J (reprint author), JOHN RADCLIFFE HOSP, INST MOLEC MED, OXFORD OX3 9DU, ENGLAND |
| Publisher: ACADEMIC PRESS INC JNL-COMP SUBSCRIPTIONS, 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 |
| Subject Category: Biotechnology & Applied Microbiology; Genetics & Heredity |
| IDS Number: NA603 |
| ISSN: 0888-7543 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |