A SAU3A POLYMORPHISM IN THE 5' END OF THE IT15 GENE THAT NONRANDOMLY SEGREGATES WITH THE HUNTINGTON DISEASE TRINUCLEOTIDE EXPANSION

Genomic clones encompassing the Huntington disease (HD) mutation were used to isolate a probe that detects size changes in the restriction f ragments that contain the HD trinucleotide repeat (TNR). This probe al so detects a frequent Sau3A polymorphism (allele sizes 1.8-kb and 2.7k b), which maps approximately 950bp from the TNR. Examination of a numb er of HD families established that the frequency of the Sau3A alleles did not differ significantly between control and HD populations; howev er, the HD expansion was always present on a chromosome that contained the 1.8-kb Sau3A allele. This association between a specific allele a nd the HD TNR expansion was significant and could provide a clue to th e chromosomal elements that produce the trinucleotide expansion on the Huntington disease chromosome.