Two New DNA-Based Tests for Mutations Causing Familial Amyloidotic Polyneuropathy

  • D. R. Jacobson
  • M. Pras
  • D. E. McFarlin
  • J. Buxbaum


Thyroxine-binding prealbumin (TBPA) has been isolated from amyloid fibrils from several kindreds with familial amyloidotic polyneuropathy (FAP), and subjected to amino acid sequencing. Mutations have been described at several positions in different families. Amyloid material from an Israeli patient with FAP (“SKO”) has been studied in two laboratories, which reported two different mutations: a position 49 substitution of glycine for threonine(l) and a a position 33 substitution of isoleucine for phenylalanine(2). The position 33 mutation, corresponding to a T to A substitution at the first position of the codon, would lead to a predicted restriction fragment length polymorphism (RFLP) using the restriction enzyme Bcl I (figure 1). We examined DNA isolated from autopsy material from SKO to attempt to clarify the mutation present. We have also studied DNA from an unrelated kindred with FAP (“SMA”) which had not been previously studied biochemically.


Restrietion Fragment Length Polymorphism Amyloid Fibril Single Base Change Familial Amyloidotic Polyneuropathy Israeli Patient 
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Copyright information

© Springer Science+Business Media New York 1988

Authors and Affiliations

  • D. R. Jacobson
    • 1
  • M. Pras
    • 2
  • D. E. McFarlin
    • 3
  • J. Buxbaum
    • 1
  1. 1.Research Service, N.Y.V.A. Medical Center, Department of MedicineNYU Medical CenterNew YorkUSA
  2. 2.Tel-Hashomer HospitalTel AvivIsrael
  3. 3.Laboratory of Neuroimmunology, NINCDS, NIHBethesdaUSA

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