Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 2, 1995 - Issue 2
5
Views
7
CrossRef citations to date
0
Altmetric
Original Article

Haplotype analysis of the transthyretin gene: Evidence for multiple recurrence of the Met30 mutation in the Caucasian population

, &
Pages 114-118 | Received 07 Nov 1994, Accepted 07 Feb 1995, Published online: 06 Jul 2009

References

  • Andrade C. A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952; 75: 408–427
  • Dwulet F E, Benson M D. Polymorphism of human plasma thyroxine binding prealbumin. Biochem Biophys Res Commun 1983; 114: 657–662
  • Benson M D. Amyloidosis. The metabolic basis of inherited disease, 7th edition, C R Scriver, A L Beaudet, W S Sly, D Valle. McGraw-Hill Inc., New York 1995; 4159–4191
  • Yoshioka K, Sasaki H, Yoshioka N, Furuya H, Harada T, Kito S, Sakaki Y. Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy. Mol Biol Med 1986; 3: 319–328
  • Yoshioka K, Furuya H, Sasaki H, Saraiva M JM, Costa P P, Sakaki Y. Haplotype analysis of familial amyloidotic polyneuropathy: evidence for multiple origins of the Val-Met mutation most common to the disease. Hum Genet 1989; 82: 9–13
  • Li S, Sommer S S. The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect. Hum Mol Genet 1989; 2(8)1303–1305
  • Wallace M R, Dwulet F E, Conneally P M, Benson M D. Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. J Clin Invest 1986; 78(1)6–12
  • Staunton H, Davis M B, Guiloff R J, Nakazato M, Miyazato N, Harding A E. Irish (Donegal) amyloidosis is associated with the transthyretin Ala60 (Appalachian) variant. Brain 1991; 114(6)2675–2679
  • Zhao N, Aoyama N, Benson M D, Skinner M., Satier F, Sakaki Y. Haplotype analysis of His58, Ala60 and Tyr77 types of familial amyloidotic polyneuropathy. Amyloid In J Exp Clin Invest 1994; 1: 75–79
  • Rukavina J G, Block W D, Jackson C E, Falls H F, Carey J H, Curtis A C. Primary systemic amyloidosis: a review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. Medicine 1956; 35: 239–344
  • Dwulet F E, Benson M D. Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana Swiss). J Clin Invest 1986; 78: 880–886
  • Madisen L, Hoar D I, Holroyd C D, Crisp M., Hodes M E. DNA banking: the effect of storage of blood and isolated DNA on the integrity of DNA. Am J Med Genet 1987; 27: 379–390
  • Nichols W C, Benson M D. Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet 1990; 37: 44–53
  • Kincaid J C, Wallace M R, Benson M D. Lateonset familial amyloid polyneuropathy in an American family of English origin. Neurology 1989; 39: 861–863
  • Barker D, Schafer M, White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 1984; 36: 131–138
  • Cooper D N, Krawczak M. The mutational spectrum of single base pair substitutions causing human genetic disease: Patterns and predictions. Hum Genet 1990; 85: 55–74
  • Cooper D N, Krawczak M. Cytosine methylation and the fate of CPG dinucleotides in vertebrate genomes. Hum Genet 1989; 83(2)181–188
  • Tsuzuki T, Mita S, Maeda S, Araki S, Shimada K. Structure of human prealbumin gene. J Biol Chem 1985; 260: 12224–12227

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.