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Cytochrome P450 2C9 (CYP2C9) polymorphisms in Chinese Li population

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单位: [1]Peoples Hosp Hainan Prov, Dept Emergency, Haikou 570311, Hainan, Peoples R China [2]Minist Hlth,Key Lab Pulm Dis,Tongji Hosp,Dept Resp & Crit Care Med,Wuhan 430030,Peoples R China [3]Huazhong Univ Sci & Technol, Wuhan 430030, Peoples R China [4]Northwest Univ, Sch Life Sci, Xian 710069, Peoples R China [5]Natl Engn Res Ctr Miniaturized Detect Syst, Xian 710069, Peoples R China
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关键词: CYP2C9 allele frequencies Chinese Li minority populations CYP2C9 star 1 CYP2C9 star 3 CYP2C9 star 42

摘要:
Background: The frequencies of Cytochrome P450 2C9 (CYP2C9) genotypes were various between populations. The aim of this study was to investigate the frequencies of the major variants of the CYP2C9 in Chinese Li minority populations. Methods: The promoter, exons and surrounding introns, and 3'-untranslated region of the CYP2C9 gene was detected by DNA sequencing to investigate in 100 unrelated healthy Chinese Li subjects. The protein function prediction was used the online tools: Sorting Intolerant From Tolerant (SIFT) and Phenotyping Version 2 (PolyPhen-2). The comparison of CYP2C9 allele frequencies in different populations were analyzed by Chi-square (chi(2)) test. Linkage disequilibrium (LD) analysis was performed using Haploview software. Results: We identified 17 different CYP2C9 single nucleotide polymorphisms (SNPs) in the Li population, including two missense mutations (3549 G > A and 42614 A > C) and two silent mutations (3514 T > Cand 50298A > T). The protein function prediction revealed the two missense mutations result in protein damaging. In addition, we detected the allele frequencies of CYP2C9 star 1, CYP2C9 star 3 and CYP2C9 star 42 were 98%, 1%, and 1%, respectively. Finally, we compared three major allelic frequency (CYP2C9 star 1, CYP2C9 star 2, and CYP2C9 star 3) between Li and other populations. We found that our results were similar to East Asians and Africans.

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出版当年[2014]版:
大类 | 4 区 医学
小类 | 4 区 医学:研究与实验
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 医学:研究与实验
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出版当年[2013]版:
Q3 MEDICINE, RESEARCH & EXPERIMENTAL
最新[2023]版:
Q4 MEDICINE, RESEARCH & EXPERIMENTAL

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第一作者单位: [1]Peoples Hosp Hainan Prov, Dept Emergency, Haikou 570311, Hainan, Peoples R China [*1]Peoples Hosp Hainan Prov, Dept Emergency, 19 Xiuhua Rd, Haikou 570102, Hainan, Peoples R China
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通讯机构: [1]Peoples Hosp Hainan Prov, Dept Emergency, Haikou 570311, Hainan, Peoples R China [*1]Peoples Hosp Hainan Prov, Dept Emergency, 19 Xiuhua Rd, Haikou 570102, Hainan, Peoples R China
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