• Amyloid · Jun 2000

    Transthyretin isoleucine-122 mutation in African and American blacks.

    • I Afolabi, K Hamidi Asl, M Nakamura, P Jacobs, H Hendrie, and M D Benson.
    • Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202, USA.
    • Amyloid. 2000 Jun 1; 7 (2): 121125121-5.

    AbstractThe 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.

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