华南地区汉族人群MDR1基因单核苷酸多态性研究

于冰筠; 胡丽莉

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华南地区汉族人群MDR1基因单核苷酸多态性研究

研究论文 | 更新时间：2023-12-11

- 华南地区汉族人群MDR1基因单核苷酸多态性研究
- MDR1 Gene Single Nucleotide Polymorphism in Southern China Han Population
- 中山大学学报(自然科学版)(中英文) 2011年50卷第2期页码：93-98
- 作者机构：
  
  1. 中山大学生命科学学院,广东,广州,510275
  2. 
  3. 广东药学院生命科学与生物制药学院,广东,广州,510006
- 作者简介：
- 基金信息：
- DOI：
  中图分类号：
- 纸质出版日期：2011，
  
  网络出版日期：2011-3-25，
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于冰筠, 胡丽莉. 华南地区汉族人群MDR1基因单核苷酸多态性研究[J]. 中山大学学报(自然科学版)(中英文), 2011,50(2):93-98.

YU Bingyun, HU Lili. MDR1 Gene Single Nucleotide Polymorphism in Southern China Han Population[J]. Acta Scientiarum Naturalium Universitatis SunYatseni, 2011,50(2):93-98.
于冰筠, 胡丽莉. 华南地区汉族人群MDR1基因单核苷酸多态性研究[J]. 中山大学学报(自然科学版)(中英文), 2011,50(2):93-98. DOI：

YU Bingyun, HU Lili. MDR1 Gene Single Nucleotide Polymorphism in Southern China Han Population[J]. Acta Scientiarum Naturalium Universitatis SunYatseni, 2011,50(2):93-98. DOI：

摘要

多药耐药基因1（MDR1）单核苷酸多态性（SNP）与疾病的易感性、药物治疗效果以及患者的生存复发等预后密切相关。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和聚合酶链反应-单链构象多态性（PCR-SSCP）方法，对华南地区无亲缘关系的汉族人群MDR1基因编码区及部分启动子区进行SNP筛查，并比较不同人种间等位基因频率的差异。结果共检测出5个多态位点：T-2410C、T-129C、C1236T、G2677T/A和C3435T，其等位基因频率-2410C为4.65%，-129C为3.11%，1236T为63.31%，2677T为44.66%，2677A为14.47%，3435T为41.18%。除T-2410C位点因报道的太少无法比较外，其余位点等位基因频率在东亚、高加索以及非洲人群中的分布存在显著差异。该研究为进一步研究华南地区汉族人群MDR1基因SNP与药物效果、药物毒副作用以及疾病易感性之间的相关性提供依据。

Abstract

Single nucleotide polymorphisms (SNPs) in multiple drug resistance 1 (MDR1) gene are associated with disease susceptibility

drug response and clinical outcome such as survival and recurrence. We conducted a systemic screen for sequence variations in all exons and part of promoter region of MDR1 gene by PCRRFLP and PCRSSCP in the Han population from Southern China. Genotype distribution differences among different ethnicity were tested by chisquare test. Five different SNPs were detected. They are T-2410C，T-129C，C1236T，G2677T/A and C3435T. The frequency of -2410C allele is 4.65%

-129C allele is 3.11%，1236T allele is 63.31%

2677T allele is 44.66%

2677A allele is 14.47%

3435T allele is 41.18%. Dramatic difference was observed in the allele distribution among different ethic populations. MDR1–2410T/C was excluded for its rare reporting. These data may be used as a basis for studies on the relationship between 〖WTBX〗MDR1〖WTBZ〗 genotypes and drug efficacy

drug toxicity

disease susceptibility in Southern China Han populations.

关键词

多药耐药基因1单核苷酸多态性汉族人群华南地区

Keywords

multiple drug resistance 1 (MDR1)single nucleotide polymorphism (SNP)Han populationSouthern China

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