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Comprehensive analysis of UGT1A1 genetic polymorphisms in Chinese Tibetan and Han populations.

Authors
Type
Published Article
Journal
Biochemical Genetics
1573-4927
Publisher
Springer-Verlag
Publication Date
Volume
50
Issue
11-12
Pages
967–977
Identifiers
DOI: 10.1007/s10528-012-9536-y
PMID: 22983686
Source
Medline
License
Unknown

Abstract

The study of polymorphism of the UGT1A1 gene has not been reported in the Chinese Tibetan population, and there are no comparisons of genetic polymorphism in the gene between Chinese Han and Tibetan populations. In this study, we directly sequenced the functional regions of the UGT1A1 gene in 200 unrelated healthy Chinese volunteers, detecting 20 variations (including five novel ones). The distributions of allele and genotype frequencies differ between the two groups. UGT1A1*6 is the major reduced functional variant in the populations, and the *27 allele was detected only in the Han group. Differences in the frequencies of the UGT1A1*6/*63 genotype between the Tibetan and Han populations were statistically significant (P = 0.009). Our genetic data might provide fundamental information for the advance of personalized medicine and will facilitate genotype-phenotype studies in larger populations.

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