中山大学学报自然科学版 ›› 2011, Vol. 50 ›› Issue (2): 93-98.

• 研究论文 • 上一篇    下一篇

华南地区汉族人群MDR1基因单核苷酸多态性研究

于冰筠1, 胡丽莉2
  

  1. (1.中山大学生命科学学院,广东 广州 510275;2. 广东药学院生命科学与生物制药学院,广东 广州 510006)
  • 收稿日期:2010-04-12 修回日期:1900-01-01 出版日期:2011-03-25 发布日期:2011-03-25
  • 通讯作者: 胡丽莉

MDR1 Gene Single Nucleotide Polymorphism in Southern China Han Population

YU Bingyun 1 ,HU Lili 2

  

  1. (1.School of Life Sciences, Sun Yatsen University, Guangzhou 510275, China;2.School of Life Science and BioPharmacology, Guangdong Pharmaceutical University,Guangzhou 510006,China)
  • Received:2010-04-12 Revised:1900-01-01 Online:2011-03-25 Published:2011-03-25

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。

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

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.

Key words: multiple drug resistance 1 (MDR1), single nucleotide polymorphism (SNP), Han population, Southern China

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