Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

doi:10.1038/ng1193-254

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Article

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

Nature genetics - 1 Nov 1993

Chung M Y, Ranum L P, Duvick L A, Servadio A, Zoghbi H Y, Orr H T

Abstract excerpt

Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an i...

Topics

Base Sequence
Cell Line
Chromosomes, Human, Pair 6
DNA
DNA Primers
Genes, Dominant
Genetic Variation
Humans
Molecular Sequence Data
Repetitive Sequences, Nucleic Acid
Spinocerebellar Degenerations

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