Transmission distortion of the mutant alleles in spinocerebellar ataxia

Hum Genet. 1997 Feb;99(2):282-4. doi: 10.1007/s004390050355.

Abstract

Spinocerebellar ataxia type 1 and type 3 (SCA1, SCA3) are autosomal dominant neurodegenerative disorders caused by expanded CAG trinucleotide repeats in novel genes. In our collective of SCA1 and SCA3 families, we observed distortion of the Mendelian 1:1 segregation of the disease. The mutated alleles were preferentially transmitted by female carriers in SCA3, whereas a gender effect on clinical features such as age of onset was not obvious. The mechanism underlying segregation distortion remains to be established.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Alleles
  • Female
  • Heterozygote
  • Humans
  • Machado-Joseph Disease / genetics
  • Male
  • Mutation*
  • Sex Characteristics
  • Spinocerebellar Degenerations / genetics*