INCIDENCE OF TRANSTHYRETIN VAL122ILE AMYLOID MUTATION IN AFRICAN-AMERICANS BORN IN INDIANAPOLIS, INDIANA, USA

摘要

Hereditary transthyretin amyloidosis is associated with greater than 80 different mutations in transthyretin. While the most common type of transthyretin amyloidosis in the world (Val30Met) is found in large pedigrees in Northern Portugal, Northern Sweden, Japan, and smaller families in United States, Europe, and Australia, one particular TTR mutation (Val122lle) is found predominantly in Americans of African descent (1-3). This mutation causes late-onset restrictive cardiomyopathy (after age 60). In previous reports allele frequencies of 0.014 (148 subjects) and 0.020 (1,688 subjects) were found (4,5). Those studies, however, used DNA samples obtained for genetic analysis of other diseases in various geographic areas. The present study determines the gene frequency in newborns in a mid-American city (Indianapolis, Indiana).