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 journalArticle

31 Citations (Scopus)

Abstract

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
Volume95
Issue number3
DOIs
StatePublished - Mar 1995

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Prealbumin
Amyloidosis
Gene Frequency
African Americans
Familial Amyloidosis
Jews
Gene Library
Codon
Population
Digestion
Polymerase Chain Reaction
Liver
DNA
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Jacobson, D. R., Alves, I. L., Saraiva, M. J., Thibodeau, S. N., & Buxbaum, J. N. (1995). Transthyretin Ser 6 gene frequency in individuals without amyloidosis. Human Genetics, 95(3), 308-312. https://doi.org/10.1007/BF00225199

Transthyretin Ser 6 gene frequency in individuals without amyloidosis. / Jacobson, Daniel R.; Alves, Isabel L.; Saraiva, Maria João; Thibodeau, Stephen N; Buxbaum, Joel N.

In: Human Genetics, Vol. 95, No. 3, 03.1995, p. 308-312.

Research output: Contribution to journalArticle

Jacobson, DR, Alves, IL, Saraiva, MJ, Thibodeau, SN & Buxbaum, JN 1995, 'Transthyretin Ser 6 gene frequency in individuals without amyloidosis', Human Genetics, vol. 95, no. 3, pp. 308-312. https://doi.org/10.1007/BF00225199
Jacobson, Daniel R. ; Alves, Isabel L. ; Saraiva, Maria João ; Thibodeau, Stephen N ; Buxbaum, Joel N. / Transthyretin Ser 6 gene frequency in individuals without amyloidosis. In: Human Genetics. 1995 ; Vol. 95, No. 3. pp. 308-312.
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