一种快速检测UGT1A1~＊28基因多态性的方法

Detection of UGT1A1~*28 Polymorphism Using Fragment Analysis

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。

Background and objective 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 UGTIA1 ＊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 UGTIA1＊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. Conclusion 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.