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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.

PMID:22649660
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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c0/3347589/067644d56b2a/AN20758251-07-015-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c0/3347589/c77d15d4af3c/AN20758251-07-015-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c0/3347589/6e3b5fd07128/AN20758251-07-015-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c0/3347589/c5d98f24d5a9/AN20758251-07-015-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c0/3347589/067644d56b2a/AN20758251-07-015-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c0/3347589/c77d15d4af3c/AN20758251-07-015-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c0/3347589/6e3b5fd07128/AN20758251-07-015-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c0/3347589/c5d98f24d5a9/AN20758251-07-015-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79c0/3347589/067644d56b2a/AN20758251-07-015-g004.jpg

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本文引用的文献

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Combining two technologies for full genome sequencing of human.将两种技术结合用于人类全基因组测序。
Acta Naturae. 2009 Oct;1(3):102-7.
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Sequencing and analysis of an Irish human genome.爱尔兰人类基因组的测序与分析。
Genome Biol. 2010;11(9):R91. doi: 10.1186/gb-2010-11-9-r91. Epub 2010 Sep 7.
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Clinical assessment incorporating a personal genome.纳入个人基因组的临床评估。
通过动态患者特征增强系统医学超越基因型数据:拥有信息并加以利用。
Front Genet. 2013 Nov 19;4:241. doi: 10.3389/fgene.2013.00241. eCollection 2013.
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Genome remodelling in a basal-like breast cancer metastasis and xenograft.基底样乳腺癌转移和异种移植中的基因组重塑。
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.对一名遗传性运动感觉神经病患者进行全基因组测序。
N Engl J Med. 2010 Apr 1;362(13):1181-91. doi: 10.1056/NEJMoa0908094. Epub 2010 Mar 10.
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Analysis of genetic inheritance in a family quartet by whole-genome sequencing.全基因组测序分析一家四口的遗传情况。
Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10.
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Complete Khoisan and Bantu genomes from southern Africa.完成来自南非的科伊桑和班图人的全基因组。
Nature. 2010 Feb 18;463(7283):943-7. doi: 10.1038/nature08795.
8
Ancient human genome sequence of an extinct Palaeo-Eskimo.已灭绝的古爱斯基摩人古人类基因组序列。
Nature. 2010 Feb 11;463(7282):757-62. doi: 10.1038/nature08835.
9
U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.U87MG 解码:一条染色体结构异常的人类癌细胞系的基因组序列。
PLoS Genet. 2010 Jan 29;6(1):e1000832. doi: 10.1371/journal.pgen.1000832.
10
Genetic ancestry is associated with subclinical cardiovascular disease in African-Americans and Hispanics from the multi-ethnic study of atherosclerosis.在动脉粥样硬化多族裔研究中,遗传血统与非裔美国人和西班牙裔人群的亚临床心血管疾病相关。
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