title: Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion.
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.
authors.affiliation: Centre Hospitalier de l'Université de Montréal, Hôpital Notre-Dame, Montreal, Quebec, Canada. massimo.pandolfo@umontreal.ca
authors.forename: M
authors.initials: M
authors.lastname: Labuda
authors.forename: D
authors.initials: D
authors.lastname: Labuda
authors.forename: C
authors.initials: C
authors.lastname: Miranda
authors.forename: J
authors.initials: J
authors.lastname: Poirier
authors.forename: B W
authors.initials: BW
authors.lastname: Soong
authors.forename: N E
authors.initials: NE
authors.lastname: Barucha
authors.forename: M
authors.initials: M
authors.lastname: Pandolfo
mesh_terms: D000352:Africa, Northern; D000483:Alleles; D001208:Asia; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D005060:Europe; D018703:Founder Effect; D005621:Friedreich Ataxia / Q000208:ethnology* / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D033862:Iron-Binding Proteins; D008877:Middle East; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D044465:White People / Q000235:genetics; D000096923:Frataxin
chemical_list: D005819:Genetic Markers; D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin