Article
Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.
American journal of human genetics - 1 May 1991
Jones L A, Skare J C, Harding J A, Cohen A S, Milunsky A, Skinner M
Abstract excerpt
Familial amyloidotic polyneuropathy (FAP) is associated with the deposition of an abnormal transthyretin (TTR) molecule. We have studied DNA from a family of Greek descent with FAP. The proband's TTR gene was asymmetrically amplified by using PCR and then was sequenced directly, to reveal a cytosine-for-guanine substitution in codon 36. This substitution removes a recognition site for endonuclease Fnu4HI....
Topics
- Adult
- Amino Acid Sequence
- Amyloidosis
- Exons
- Female
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Peripheral Nervous System Diseases
- Polymerase Chain Reaction