DNA Tests for Four Prealbumin Mutations in Hereditary Amyloidosis
A number of variant prealbumin (transthyretin) proteins with single amino acid substitutions have been found to be associated with systemic autosomal dominant amyloidosis. One variant described in Portuguese, Japanese, Swedish and other kindreds contains a methionine at position 30 (Met-30). Another form described in a Jewish patient has an isoleucine at position 33 (Ile-33). The Appalachian form contains an alanine at position 60 (Ala-60). Another kindred that is of German origin has been found with a tyrosine at position 77 (Tyr-77), and the Indiana/Swiss amyloidosis has a serine at position 84 (Ser-84). Point mutations in the prealbumin gene have been predicted for each form, and all five of these single base changes theoretically create new sites for specific restriction enzymes.
KeywordsRestriction Fragment Length Polymorphism cDNA Probe Gene Carrier Restriction Fragment Length Polymorphism Analysis Single Amino Acid Substitution
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