Expansion of a (CAG)n repeat region in a sporadic case of HD.

doi:10.1111/j.1600-0404.1995.tb01026.x

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Article

Expansion of a (CAG)n repeat region in a sporadic case of HD.

Acta neurologica Scandinavica - 1 Aug 1995

Bozza A, Malagù S, Calzolari E, Novelletto A, Pavoni M, del Senno L

Abstract excerpt

The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene on chromosome 4. A simple polymerase chain reaction assay has been used for the assessment of the (CAG)n expansion in a 72-year-old woman with...

Topics

Aged
Alleles
Autoradiography
DNA
DNA Primers
Female
Gene Expression
Humans
Huntington Disease
Pedigree
Polymerase Chain Reaction
Trinucleotide Repeats

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