Abstract
The GAA triplet repeat expansion that causes Friedreich ataxia is found only in individuals of European, North African, Middle Eastern, or Indian origin (Indo-European and Afro-Asiatic speakers). Analysis of normal alleles of the GAA repeat and of closely linked markers suggests that expansions arose through a unique two-step process. A major implication of these findings is that Friedreich ataxia may not exist among sub-Saharan Africans, Amerindians, and people from China, Japan, and Southeast Asia.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Africa, Northern
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Alleles
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Asia
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Asian People / genetics
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Black People / genetics
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Europe
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Founder Effect
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Frataxin
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Friedreich Ataxia / ethnology*
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Friedreich Ataxia / genetics*
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Genetic Linkage
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Genetic Markers
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Haplotypes
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Humans
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Iron-Binding Proteins*
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Middle East
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Phosphotransferases (Alcohol Group Acceptor) / genetics
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Trinucleotide Repeat Expansion / genetics*
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White People / genetics
Substances
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Genetic Markers
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Iron-Binding Proteins
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Phosphotransferases (Alcohol Group Acceptor)