DR. MARTHA M SKINNER, M.D.
Osteopathic Medicine in Boston, MA

4816388, Mar 28, 1989

Oct 30, 1985

6/792817

Jean D. Sipe - Roslindale MA
Alexander S. Whitehead - Needham MA
Alan S. Cohen - Newton MA
Martha Skinner - Chestnut Hill MA

Children's Medical Center Corporation - Boston MA

C12Q 168, C07H 1512, C12N 1500

435 6

Recombinant human prealbumin and a method for producing such human prealbumin through recombinant DNA techniques including preparation and isolation of a cDNA sequence coding for human prealbumin, construction of a cloning vector and an expression vector containing said cDNA sequence, and expression of human prealbumin in a prokaryotic cell transformed by said expression vector are disclosed. The invention further relates to the use of human prealbumin cDNA in the diagnosis by hybridization methodologies of medical conditions with which variant forms of prealbumin are associated. Also disclosed is a method for diagnosing some Type I familial amyloid polyneuropathies by a restriction endonuclease assay with an enzyme which recognizes the nucleotide base sequence 5'-ATGCAT-3'.