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标题：Genotype Frequencies of UDP-Glucuronosyltransferase 1A1 Promoter Gene Polymorphism in the Population of Healthy Croatian Pre-Scholars
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作者：Marinković, Natalija ; Pašalić, Daria ; Gršković, Branka 等
期刊名称：Collegium Antropologicum
印刷版ISSN：0350-6134
出版年度：2008
卷号：32
期号：3
页码：725-729
出版社：Hrvatsko antropološko društvo
摘要：Increased serum bilirubin levels in patients with Gilbert syndrome (GS) are caused by reduction of hepatic activity of bilirubin glucuronosyltranferase to about 30% of normal. UGT1A1 genetic polymorphism with absent or very low bilirubin UDP-glucuronosyltransferase (B-UGT) activity is associated with Gilbert’s syndrome (GS) and other hyperbilirubinemias. The genetic basis of GS is the insertion of two additional TA nucleotides (resulting in seven repeats of TA) in the TATAA box, present in proximal promoter of UGT1A1 gene. This study included 323 Croatian pre-scholars, including 164 boys and 159 girls. Statistical analysis showed significant difference for total bilirubin concentration between different genotypes (p between genotypes 6/6 and 7/7 (p are significantly correlated with 7/7 genotype which is present in 9.8 % of population studied.
关键词：unconjugated hyperbilirubinemia; Gilbert syndrome; UGT1A1 gene; polymorphism