Genetic polymorphism analysis of the drug-metabolizing enzyme CYP1A2 in a Uyghur Chinese population: a pilot study
作者： Tingting Geng , Xi yang Zhang , Li Wang , Huijuan Wang , Xugang Shi
DOI: 10.3109/00498254.2015.1089367
关键词:
摘要: Abstract1. CYP1A2 is a highly polymorphic gene and CYP1A2 enzyme results in broad inter-individual variability response to certain pharmacotherapies, while little known about the genetic variation of Uyghur Chinese population. The aim present study was screen volunteers for polymorphisms.2. We used DNA sequencing investigate promoter, exons, introns, 3’ UTR 96 unrelated healthy individuals. We also SIFT (Sorting Intolerant From Tolerant) PolyPhen-2 (Polymorphism Phenotyping v2) predict protein function novel non-synonymous mutation coding regions.3. We identified 20 different polymorphisms population, including two variants (119A > G 2410G > A). Variant 119A > G predicted be probably damaging on by PolyPhen-2, contrast, 2410G > A as benign. allele frequencies CYP1A2*1A, *1B, *1F, *1G, *1J, *1M, *4, *...
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