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Bertram et al. (2005) , NEJM, 352:884-894.

Bertram et al. (2005) , NEJM, 352:884-894.

Bertram et al. (2005) , NEJM, 352:884-894.

Bertram et al. (2005) , NEJM, 352:884-894.

1 2 3 4 5 6 7 8 9 11 10 Transcript Variant 1: All 11 exons Transcript Variant 2: Exon 8 excluded Ubiquilin 1 Gene (UBQLN1) Differential RNA splicing gives two different mRNA variants:

AD Cases have more mRNA variant 2 than Controls. Transcript Variant 2 Transcript Variant 1 AD Cases Controls AD Cases have more mRNA variant 2 than Controls.

The C allele gives more “high risk” mRNA than the T allele Genotype CC (High Risk) Genotype TC (Medium Risk) Genotype TT (Low Risk) The C allele gives more “high risk” mRNA than the T allele Transcript Variant 2 Transcript Variant 1

Conclusion: A C/T allele in the intron after exon 8 influences RNA splicing. The C allele results in more transcript variant 2 than the T allele. The more transcript 2, the greater the risk for Alzheimers.