关键词: 尿苷二磷酸葡萄糖醛酸转移酶1A1基因, Gilbert综合征, 基因多态性

Abstract: Objective To investigate the polymorphism of UDP glucuronosyltransferase family 1 member A1（UGT1A1）in 29 patients with Gilbert＇s syndrome and 22 healthy controls.Methods DNA isolated from peripheral blood and amplified by polymerase chain reaction（PCR）was subjected for sequencing UGT1A1 gene exons and enhancer regions.Results UGT1A1 gene variations were detected in enhancer region,TATA box region and the exon 1 region,respectively.Among 29 patients with Gilbert＇s syndrome,10 G/G homozygosis and 15 T/G heterozygosis were detected in enhancer region UGT1A1*60 3729（T>G）,15 TATA（7）TAA homozygosis and 2 TATA（6）/TATA（7）TAA heterozygosis in TATA box region,and 3 A/A homozygosis and 15 G/A heterozygosis in exon 1 region.In 20 healthy controls,2 G/G and 11 T/G mutations were detected in enhancer region UGT1A1*60 3729（T>G）,7 homozygous TATA（6）/TATA（7）TAA mutation in TATA box region,and 5 G/A mutations in exon 1 region.Conclusion UGT1A1 gene mutations in patients with Gilbert＇s syndrome is higher than that in healthy controls,which could only be used as a reference index for diagnosis of Gilbert＇s syndrome.

Key words: Glucuronosyltransferase 1A1 gene（UGT1A1）, Gilbert＇s syndrome, Gene polymorphism