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人类遗传变异与个性化医疗。

Human genetic variation and personalized medicine.

作者信息

Agrawal Suraksha, Khan Faisal

机构信息

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow.

出版信息

Indian J Physiol Pharmacol. 2007 Jan-Mar;51(1):7-28.

Abstract

Human genome sequencing results revealed an insight into the role of human genetic variation behind differential susceptibility of human diseases, differential response to pharmacological agents and presence of varied phenotypes. This leads to the concept of personalized medicine. In the present review we have discussed the objectives and approaches for carrying out pharmacogenomics and pharmacogenetics studies. The review also incorporates the major findings categorizing the common diseases on the basis of genetic profiles and ethnic information and in establishing personalized disease diagnosis, drug responses and treatment modalities based on the genetic determinants. Overall an attempt has been made to highlight the importance of studying the genetic profiles of an individual in biomedical and pharmacogenomics research.

摘要

人类基因组测序结果揭示了人类遗传变异在人类疾病易感性差异、对药物制剂的不同反应以及多种表型存在背后所起的作用。这催生了个性化医疗的概念。在本综述中,我们讨论了开展药物基因组学和药物遗传学研究的目标与方法。该综述还纳入了主要研究结果,这些结果基于基因图谱和种族信息对常见疾病进行分类,并基于遗传决定因素建立个性化疾病诊断、药物反应和治疗模式。总体而言,本文试图强调在生物医学和药物基因组学研究中研究个体基因图谱的重要性。

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