Children's Medical Center Corporation

Alan S Cohen

Jean D Sipe

Martha Skinner

Alexander S Whitehead

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'.

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Newton, MA, United States of America

Alan S Cohen