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DNA Polymorphisms Analysis in Families with Familial Amyloidotic Polyneuropathy (FAP) from Different Ethnic Origins

  • Maria do Rosário Almeida
  • Katsuji Yoshioka
  • Hiroyuki Sasaki
  • Yoshiyuki Sakaki
  • Pedro P. Costa
  • Maria João M. Saraiva
Chapter

Abstract

Human plasma transthyretin (TTR) has been found associated with familial amyloidotic polyneuropathy (FAP). A mutant TTR with a methionine for valine substitution at position 30 (TTR(Met30)) was detected in amyloid deposits, serum and cerebrospinal fluid of Portuguese FAP patients1,2,3. This mutation has been also found in FAP patients from other ethnic origins, such as in Swedish4, Japanese5,6, Greek7 and Italian8 kindreds.

Keywords

Restriction Site Ethnic Origin Multiple Origin Familial Amyloidotic Polyneuropathy Allele Specific Oligonucleotide 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    M. J. M. Saraiva, P. P. Costa, S. Birken and D. S. Goodman, Presence of an abnormal transthyretin (prealbumin) in familial amyloidotic polyneuropathy, Portuguese type, Trans. Ass. Amer. Phys., 96: 261 (1983).Google Scholar
  2. 2.
    M. J. M. Saraiva, S. Birken, P. P. Costa, and D. S. Goodman, Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin), J. Clin. Invest., 74: 104 (1984).CrossRefGoogle Scholar
  3. 3.
    M. J. M. Saraiva, P. P. Costa, and D. S. Goodman, Biochemical marker in familial amyloidotic polyneuropathy, Portuguese type, J. Clin. Invest., 76: 2171 (1985).CrossRefGoogle Scholar
  4. 4.
    F. E. Dwullet and M. D. Benson, Primary structure of an amyloid prealbumin and its plasma precursor in heredofamilial polyneuropathy of Swedish origin, Proc. Natl. Acad. Sci. USA, 81: 694 (1984).CrossRefGoogle Scholar
  5. 5.
    S. Tawara, M. Nakazato, K. Kangawa, H. Matsuo, and S. Araki, Identification of amyloid prealbumin variant in familial amyloidotic poyneuropathy (Japanese type), Biochem. Biophys. Res. Commun., 116: 880 (1983).CrossRefGoogle Scholar
  6. 6.
    M. Nakazato, K. Kangawa, N. Minamino, S. Tawara, H. Matsuo, and S. Araki, Identification of a prealbumin variant in the serum of a Japanese patient with familial amyloidotic polyneuropathy, Biochem. Biophys. Res. Commun., 122: 712 (1984).CrossRefGoogle Scholar
  7. 7.
    M. J. M. Saraiva, W. Sherman, and D. S. Goodman, Presence of a plasma (prealbumin) variant in familial amyloidotic polyneuropathy in a kindred of Greek origin, J. Lab. Clin. Med., 108: 17 (1986).Google Scholar
  8. 8.
    M. J. M. Saraiva, P. P. Costa, and D. S. Goodman, Transthyretin (prealbumin) in familial amyloidotic polyneuropathy: genetic and functional aspects, in: “Advances in Neurology”, vol 48: “Molecular Genetics of Neurological and Neuromuscular Disease”, p. 189, DiDonato et al., eds., Raven Press (In Press).Google Scholar
  9. 9.
    S. Pagnier, J. G. Mears, O. Dunda-Bekhodsa, K. E. Schaefer-Rego, C. Beld-sord, R. L. Nagel, and D. Labie, Evidence for the multicentric origin of the sickle cell hemoglobulin gene in Africa, Proc. Natl. Acad. Sci. USA, 81: 1771 (1984).CrossRefGoogle Scholar
  10. 10.
    K. Yoshioka, H. Sasaki, N. Yoshioka, H. Furuya, T. Harada, S. Kito, and Y. Sakaki, Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy, Mol. Biol. Med., 3: 319 (1986).Google Scholar
  11. 11.
    K. Yoshioka, H. Furuya, H. Sasaki, M. J. M. Saraiva, P. P. Costa, Y. Sakaki, Haplotype analysis of familial amyloidotic polyneuropathy: an evidence for multiple origins of the Val Met mutation, in.: Proc. of the Vth International Symposium on Amyloidosis, held in Hakone, Japan 1987 (this volume).Google Scholar
  12. 12.
    M. J. M. Saraiva, P. P. Costa, F. Salvi, C. A. Tassinari, G. Romeo, M. R. Almeida, A. Banzhoff, and K. Altland, Demonstration of a transthyretin (prealbumin) variant in Italian kindreds with familial amyloidotic polyneuropathy, in: Proc. of the Vth International Symposium on Amyloidosis held in Hakone, Japan 1987 (this volume).Google Scholar
  13. 13.
    Y. W. Kan, and A. M. Dozy, Polymorphisms of DNA sequence adjacent to human-globin structural gene relationship to sickle mutation, Proc. Natl. Acad. Sci., 75: 5631 (1978).CrossRefGoogle Scholar
  14. 14.
    E. M. Southern, Detection of specific sequences among DNA fragments separated by gel electrophoresis, J. Mol. Biol., 98: 503 (1975).CrossRefGoogle Scholar
  15. 15.
    T. Maniatis, A. Jeffrey, D. G. Kleid, Nucleotide sequence of the right-ward operator of phage, Proc. Natl. Acad. Sci. USA, 72: 1184 (1975).CrossRefGoogle Scholar
  16. 16.
    D. R. Soprano, J. Herbert, K. J. Soprano, E. A. Schon, and D. S. Goodman, Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat, J. Biol. Chem., 260: 11793 (1985).Google Scholar
  17. 17.
    K. Yoshioka, N. Yoshioka, K. Nakabeppu, and Y. Sakaki, Two RFLPs associated with the human prealbumin gene, Nucl. Acids Res., 14: 3147 (1986).CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1988

Authors and Affiliations

  • Maria do Rosário Almeida
    • 1
  • Katsuji Yoshioka
    • 2
  • Hiroyuki Sasaki
    • 2
  • Yoshiyuki Sakaki
    • 2
  • Pedro P. Costa
    • 3
  • Maria João M. Saraiva
    • 1
  1. 1.Department of Biochemistry, Instituto de Ciências Biomédicas Abel SalazarUniversidade do PortoPortugal
  2. 2.Research Laboratory for Genetic InformationKyushu UniversityMaidashi, FukuokaJapan
  3. 3.Centro de Estudos de Paramiloidose, Instituto Nacional de SaúdePortoPortugal

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