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Abstract:
Background: Different single nucleotide polymorphisms (SNPs) in gene may lead to different drug metabolic activity, and different SNPs may also be associated with genetic predisposition of certain diseases. CYP3A5, as one of the most active gene in CYP450 3A superfamily, has become a hot topic in medicine. Since the research about the genetic diversity of CYP3A5 in Tibetans is rare, we carried the study to explore the genetic polymorphisms of it in one Tibetan population who living in Tibetan. Methods: DNA sequencing the promoter, exons and surrounding introns, and 3'-untranslated region of the CYP3A5*1 gene in 96 healthy, unrelated volunteers of Tibetan by Direct Sequencing approach. Results: We finally identified 23 different CYP3A5 polymorphisms, including three novel mutants in promoter, one novel nonsynonymous variant (C27122A) and four in the intron region. We found the allele frequencies of CYP3A5*1A, CYP3A5*1C, CYP3A5*1E and CYP3A5*3A were 0.328, 0.52, 0.182 and 0.484, respectively. Tfsitscan analyzed that some mutants leads the density of transcription factor binding varied in the different promoter regions. Conclusion: Our results obtain basic information of CPY3A5 alleles in Tibetans and suggest that the diverse ethnic populations may have different enzymatic activities of CYP3A5.
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Source :
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY
ISSN: 1936-2625
Year: 2016
Issue: 3
Volume: 9
Page: 3717-3725
1 . 7 0 6
JCR@2016
0 . 2 5 2
JCR@2019
ESI Discipline: CLINICAL MEDICINE;
ESI HC Threshold:158
JCR Journal Grade:3
CAS Journal Grade:4
Cited Count:
WoS CC Cited Count: 5
SCOPUS Cited Count:
ESI Highly Cited Papers on the List: 0 Unfold All
WanFang Cited Count:
Chinese Cited Count:
30 Days PV: 5
Affiliated Colleges: