Transthyretin isoleucine-122 mutation in African and American blacks

Isaki Afolabi Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, 46202, USA

Kamran Hamidi Asl Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, 46202, USA

Masaaki Nakamura Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, 46202, USA

Peter Jacobs Hematology Department, The Wynberg Hospital, Cape Town, South Africa

Hugh Hendrie Department of Psychiatry, Indiana University School of Medicine, Indianapolis, Indiana, 46202, USA

Merrill D. Benson Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, 46202, USA; Richard L. Roudebush Veterans Affairs Medical Center, Indianapolis, Indiana, 46202, USACorrespondence[email protected]

Abstract

The gene frequency of the transthyretin (TTR) mutation (Vall22Ile) 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 Vall22Ile TTR mutation was identified in I 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.

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Transthyretin isoleucine-122 mutation in African and American blacks

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Transthyretin isoleucine-122 mutation in African and American blacks

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