Transthyretin isoleucine-122 mutation in African and American blacks

Isaki Afolabi, Kamran Hamidi Asl, Masaaki Nakamura, Peter Jacobs, Hugh Hendrie, Merrill D. Benson

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


The gene frequency of the transthyretin (TTR) mutation (Val122Ile) was studied in African and African-American populations. The African populations analyzed included the Zulu and Xhosa of South Africa, and Yorubas from the city of Ibadan, Nigeria. The African-American population included patients at the Veterans Affairs (VA) Medical Center, Indianapolis, and newborns from a local hospital in Indianapolis. The Val122Ile TTR mutation was identified in 1 of 55 Zulu, 0 of 34 Xhosa, 0 of 9 Nigerian subjects, 5 of 51 Veteran patients, and 3 of 103 newborns. Assuming the 2.91% prevalence in newborns to be the norm, there is a significant increased prevalence in the VA patient population.

Original languageEnglish (US)
Pages (from-to)121-125
Number of pages5
Issue number2
StatePublished - Jan 1 2000


  • Amyloidosis
  • Cardiomyopathy
  • Hereditary
  • Isoleucine-122
  • Transthyretin

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

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