Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion

Neurology. 2000 Jun 27;54(12):2322-4. doi: 10.1212/wnl.54.12.2322.

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

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Africa, Northern
  • Alleles
  • Asia
  • Asian People / genetics
  • Black People / genetics
  • Europe
  • Founder Effect
  • Frataxin
  • Friedreich Ataxia / ethnology*
  • Friedreich Ataxia / genetics*
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Humans
  • Iron-Binding Proteins*
  • Middle East
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Trinucleotide Repeat Expansion / genetics*
  • White People / genetics

Substances

  • Genetic Markers
  • Iron-Binding Proteins
  • Phosphotransferases (Alcohol Group Acceptor)