Abstract
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. Allele-specific PCR was employed for diagnosis of the mutation. The predicted amino acid change of alanine to proline at position 36 was confirmed by protein sequencing of the proband's plasma TTR.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Aleshire S. L., Bradley C. A., Richardson L. D., Parl F. F. Localization of human prealbumin in choroid plexus epithelium. J Histochem Cytochem. 1983 May;31(5):608–612. doi: 10.1177/31.5.6341455. [DOI] [PubMed] [Google Scholar]
- Liddle C. N., Reid W. A., Kennedy J. S., Miller I. D., Horne C. H. Immunolocalization of prealbumin: distribution in normal human tissue. J Pathol. 1985 Jun;146(2):107–113. doi: 10.1002/path.1711460205. [DOI] [PubMed] [Google Scholar]
- Nichols W. C., Liepnieks J. J., McKusick V. A., Benson M. D. Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. Genomics. 1989 Oct;5(3):535–540. doi: 10.1016/0888-7543(89)90020-7. [DOI] [PubMed] [Google Scholar]