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| 中国汉族人群ABCB1基因SNPs与单倍型频率分析 | |
| 引用本文： | 李亮,李川江,江海霞,李忠海.中国汉族人群ABCB1基因SNPs与单倍型频率分析[J].实用医学杂志,2011,27(21):3831-3834. |
| 作者姓名： | 李亮 李川江 江海霞 李忠海 |
| 作者单位： | 1. 南方医科大学基础医学院医学遗传学教研室,广州市,510515 2. 南方医科大学基础医学院南方医院器官移植科,广州市,510515 3. 南方医科大学基础医学院南方医院检验科,广州市,510515 |
| 基金项目： | 国家自然科学基金，广东省自然科学基金 |
| 摘 要： | 目的:分析中国汉族人群中ABCB1基因SNPs频率与单倍型频率。方法:采用DNA直接测序法对130例汉族人ABCB1基因-129T>C,1236C>T,2677G>T/A和3435C>T测序并构建单倍型,分析各个SNPs频率与单倍型频率。结果:突变位点-129C、1236T、2677T、2677A和3435T频率分别为4.62%、64.23%、35.00%、12.69%和35.38%;单倍型T-T-T-T和C-T-T-T频率分别为31.15%和0.77%。结论:汉族人群中ABCB1基因功能性的SNP突变位点与单倍型频率较高,对相关SNPs和单倍型进行基因分型可以指导临床上P-糖蛋白相关药物的安全有效使用。 |
| 关 键 词： | 多态性 单核苷酸 ABCB1基因 单倍型 频率 |
Frequencies of the SNPs and haplotypes of ABCB1 gene in Chinese Han population |
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| LI Liang,LI Chuan-jiang,JIANG Hai-xia,LI Zhong-hai.Frequencies of the SNPs and haplotypes of ABCB1 gene in Chinese Han population[J].The Journal of Practical Medicine,2011,27(21):3831-3834. | |
| Authors: | LI Liang LI Chuan-jiang JIANG Hai-xia LI Zhong-hai |
| Institution: | LI Liang,LI Chuan-jiang,JIANG Hai-xia,LI Zhong-hai. School of Basic Medical Sciences,Southern Medical University,Guangzhou 510515,China |
| Abstract: | Objective To analyze the frequencies of the SNPs and haplotypes of ABCB1 gene in Chinese Han population.Methods SNPs-129T > C,1236C > T,2677G > T/A,and 3435C > T were sequenced,and the haplotypes based on the four SNPs were constructed.A total of 130 Chinese Han individuals were analyzed for the frequencies of ABCB1 gene SNPs and haplotypes.Results The frequencies of the mutant allele-129C,1236T,2677T,2677A,and 3435T were 4.62%,64.23%,35.00%,12.69%,and 35.38%,respectively.The frequencies of the T-T-T-T and ... |
| Keywords: | Polymorphism single nucleotide ABCB1 gene Haplotype Frequency |
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