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Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese

 

作者: Ching-Shan Huang,   Guo-An Luo,   May-Jen Huang,   Shu-Chuan Yu,   Sien-Sing Yang,  

 

期刊: Pharmacogenetics  (OVID Available online 2000)
卷期: Volume 10, issue 6  

页码: 539-544

 

ISSN:0960-314X

 

年代: 2000

 

出版商: OVID

 

关键词: UGT1A1gene;promoter area;coding region;compound heterozygous variation

 

数据来源: OVID

 

摘要:

The activity of uridine-diphosphoglucuronosyl transferase 1 (UGT1) may influence the concentration of serum bilirubin. Because UGT1 is too labile to be measured with classical biochemical methods, we analysed the wholeUGT1A1gene in 290 healthy Taiwanese adults by using the polymerase chain reaction method, and investigated the relationship betweenUGT1A1genotypes and serum bilirubin levels. The results showed that slightly more than 50% of the subjects had one or more variant sites inUGT1A1gene. The most common variant was A(TA)6TAA/A(TA)7TAA (6/7) in the promoter area, followed by heterozygous variation within the coding region, compound heterozygous and homozygous variations. Among the four variant sites within the coding region, 211 G to A was the predominate one, 1091 C to T was a novel variation, and 686 C to A was associated with 6/7. Subjects with 6/7 or heterozygous variation within the coding region or compound heterozygous (plus one homozygous) variation had significantly higher bilirubin levels than those with wildUGT1A1gene. When the 290 subjects were stratified into six groups according to their serum bilirubin concentrations, the bilirubin levels were correlated well to the frequencies of variantUGT1A1gene. Our results show that there is a strong association betweenUGT1A1gene and bilirubin levels in healthy Taiwanese adults. The occurrence of A(TA)7TAA allele was relatively rare and the variation rate within the coding region was much higher in Taiwanese compared to that in Caucasians.

 

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