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The Use of Genetics in Guiding Therapy

UGT1A1 Genetic Variants

Slide 28

June 2012

Numerous UGT1A1 alleles can lead to deficient UGT1A1 activity. The most common allele that occurs in many populations occurs in the promoter region of the gene. The UGT1A1 promoter contains a TA repeat region that can have 5-8 TA repeats. Normal or wild-type activity of UGT1A1 is associated with 6 TA repeats. Deficient UGT1A1 activity occurs with 7 or 8 TA repeats, also known as *28 and *37, respectively, and these alleles are also associated with hyperbilirubinemia and irinotecan toxicity.

UGT1A1 Genetic Variants


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