Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1

  title={Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1},
  author={Pernille Koefoed and L. Hasholt and Kirsten Fenger and J{\o}rgen Erik Nielsen and Hans Eiberg and Karsten Buschard and Sven Asger S{\o}rensen},
  journal={Human Genetics},
Spinocerebellar ataxia type 1 (SCA1) is an autosomal, dominantly inherited neurodegenerative disease caused by an unstable CAG trinucleotide repeat expansion in the ataxin-1 gene located on chromosome 6p22-p23. The expanded CAG repeat is unstable during transmission, and a variation in the CAG repeat length has been found in different tissues, including sperm samples from affected males. In order further to examine the mitotic and meiotic instability of the (CAG)n stretch we have performed… 

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

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