Version 2.78

Description

The presence of an additional TA repeat in the TATA region of the UGT1A1 promoter (ie, 7 TA repeats; UGT1A1*28, rs8175347) markedly reduces the level of hepatic bilirubin UDP-glucuronosyltransferase 1A1 (UGT1A1), the enzyme necessary for the conjugation of bilirubin. Individuals homozygous for the UGT1A1*28 allele develop Gilbert syndrome, a condition characterized by periods of mild unconjugated hyperbilirubinemia. In addition, individuals positive for the UGT1A1*28 allele are more likely to experience severe adverse effects during irinotecan chemotherapy. Identifying a patient's genotype for the UGT1A1 allele helps determine appropriate starting dosages for irinotecan, reducing the risk of severe toxicity and improving overall therapy. Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
UGT1A1 gene c.A(TA)7TAA(*28)
Part Type
Component (Describes the core component or analyte measured)
Created On
2012-10-01
Construct for LOINC Short Name
UGT1A1*28

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP157499-7

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) UGT1A1 基因.c.A(TA)7TAA(*28)
es-ES Spanish (Spain) gen UGT1A1.c.A(TA)7TAA(*28)
it-IT Italian (Italy) UGT1A1, gene.c.A(TA)7TAA(*28)
Synonyms: Gene UGT1A1 c.A(TA)7TAA(*28)
tr-TR Turkish (Turkey) UGT1A1 geni.c.A(TA)7TAA(*28)
ru-RU Russian (Russian Federation) UGT1A1 ген.c.A(TA)7TAA(*28)
nl-NL Dutch (Netherlands) UGT1A1-gen.c.A(TA)7TAA(*28)