Transthyretin Ser 6 gene frequency in individuals without amyloidosis

Daniel R. Jacobson, Isabel L. Alves, Maria João Saraiva, Stephen N. Thibodeau, Joel N. Buxbaum

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


Transthyretin (TTR) Ser 6 was originally described in a Scottish kindred without amyloidosis. This variant, arising from a G→A transition in codon 6 that destroys an MspI site and creates a BsrI site, was present in none of 50 controls, and was therefore throught to be rare. This variant has subsequently been found in a normal human cDNA liver library and in two unrelated patients with familial amyloidosis and other TTR variants, raising the question whether it is actually a common polymorphism. To address this question, we performed PCR and restriction digestion of 574 DNA samples from people without evidence of amyloidosis or a known family history of amyloidosis. The TTR Ser 6 allele frequency was 33/558 (.060) in Caucasians (including 8/192 (.04)) in North American Ashkenazic Jews, 16/218 (.07) in North American non-Jews, and 9/148 (.06) in Portuguese), 3(242 (.01) in African Americans, 0/140 in Africans, and 0/208 in Asians. These data are most suggestive of a single Caucasian founder and the known 25% admixture of "Caucasian" genes in the African-American population. Alternatively, as this variant arose from a transition at a CG dinucleotide "hot spot," it may have arisen on multiple occasions. These data indicate that TTR Ser 6 is a common non-amyloidogenic population polymorphism in Caucasians.

Original languageEnglish (US)
Pages (from-to)308-312
Number of pages5
JournalHuman genetics
Issue number3
StatePublished - Mar 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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