基因组、种群和疾病：民族基因组学与个性化医学。

Genomes, populations and diseases: ethnic genomics and personalized medicine.

机构信息

Research Institute for Medical Genetics, Siberian Branch, Russian Academy of Medical Sciences.

出版信息

Acta Naturae. 2010 Oct;2(4):15-30.

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3347589/

Abstract

This review discusses the progress of ethnic genetics, the genetics of common diseases, and the concepts of personalized medicine. We show the relationship between the structure of genetic diversity in human populations and the varying frequencies of Mendelian and multifactor diseases. We also examine the population basis of pharmacogenetics and evaluate the effectiveness of pharmacotherapy, along with a review of new achievements and prospects in personalized genomics.

摘要

这篇综述讨论了民族遗传学、常见疾病遗传学和个性化医学的概念。我们展示了人类群体遗传多样性结构与孟德尔和多因素疾病的不同频率之间的关系。我们还考察了药物遗传学的群体基础，并评估了药物治疗的效果，同时回顾了个性化基因组学的新成就和前景。