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- Publisher
- Wiley
- Copyright
- Copyright © 1994 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.1320510210
- pmid
- 8092189
- Publisher site
- See Article on Publisher Site
Abstract
We describe a compound heterozygous Δ‐F508/Δ‐I507 cystic fibrosis patient. Molecular analysis by polymerase chain reaction (PCR)‐mediated site‐directed mutagenesis showed the 219 bp fragment observed in Δ‐F508 homozygotes. The father showed a Δ‐F508 heterozygous pattern while the mother and sister showed a normal pattern. There were four possibilities to explain these results: a) the patient was a Δ‐F508/Δ‐I507 compound heterozygote, because the Δ‐I507 allele fails to amplify when analyzed with Δ‐F508 primers due to a double mismatch between the primers and template; b) uniparental isodisomy; c) nonmaternity; and d) sample processing mix‐up.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 1994
Keywords: ; ; ;