Abstract
The transthyretin (TTR) Ile 122 variant is associated with cardiac amyloidosis in individuals of African descent. To determine the prevalence of the allele encoding TTR Ile 122 in African-Americans, we have used PCR and restriction analysis to test DNA from African-Americans from various geographic areas, and found an allele frequency of 66/3376 (0.020), which is higher than the value we previously reported in a much smaller pilot study. Our data indicate that this TTR variant is present at equal frequency in African-Americans throughout the U.S., and suggest that this mutation may be a common, often unrecognized cause of cardiac disease in African-Americans.
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Received: 23 January 1996
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Jacobson, D., Pastore, R., Pool, S. et al. Revised transthyretin Ile 122 allele frequency in African-Americans. Hum Genet 98, 236–238 (1996). https://doi.org/10.1007/s004390050199
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DOI: https://doi.org/10.1007/s004390050199