Background: Uridine-diphosphoglucuronosyl transferase 1A1 (UGT1A1), UGT1A1*28 polymorphism can reduce UGT1A1 enzymatic activity, which may lead to severe toxicities in patients who receive irinotecan. This study tries to build a fragment analysis method to detect UGT1A1*28 polymorphism.
Methods: A total of 286 blood specimens from the lung cancer patients who were hospitalized in Guangdong General Hospital between April 2014 to May 2015 were detected UGT1A1*28 polymorphism by fragment analysis method.
Results: Comparing with Sanger sequencing, precision and accuracy of the fragment analysis method were 100%. Of the 286 patients, 236 (82.5% harbored TA6/6 genotype, 48 (16.8%) TA 6/7 genotype and 2 (0.7%) TA7/7 genotype.
Conclusions: Our data suggest hat the fragment analysis method is robust for detecting UGT1A1*28 polymorphism in clinical practice. It's simple, time-saving, and easy-to-carry.
背景与目的 尿苷二磷酸葡萄糖醛酸转移酶（uridine diphosphate glucuronosyl transferase 1A1, UGT1A1）是伊立替康代谢最主要的同工酶，UGT1A1基因的多态性影响UGT1A1的活性，本研究建立片段分析法检测UGT1A1*28 TATA盒的多态性。方法 调取2014年4月-2015年5月在广东省人民医院的住院肺癌患者库存血液标本286例，建立片段分析法检测UGT1A1*28 TATA多态性，与Sanger测序方法比较其精确度和准确度。结果 286例肿瘤血液中，UGT1A1*28 TATA盒TA6/6型有236例（82.5%），TA6/7型有48例（16.8%），TA7/7型2例（0.7%）。片段分析法与Sanger测序法比较，精确度与准确度达100%。结论 片段分析法适用于临床检测UGT1A1*28多态性，成本低且方便快捷。.
Keywords: Fragment analysis; Polymorphism; UGT1A1.