Article
Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism.
Human genetics - 1 Jul 1996
Magnani C, Cremonesi L, Giunta A, Magnaghi P, Taramelli R, Ferrari M
Abstract excerpt
In the cystic fibrosis conductance transmembrane regulator (CFTR) gene a few small deletions and only a large, complex, 50-kb deletion have been described so far. We report a second large deletion, which had been hypothesized in a patient affected by cystic fibrosis on the basis of an abnormal pattern of inheritance of the intragenic microsatellites IVS17b/TA and IVS17b/CA. Southern blot analysis revealed the...
Topics
- Adult
- Alleles
- Base Sequence
- Blotting, Southern
- Cloning, Molecular
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Primers
- Female
- Haplotypes
- Humans