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学科主题: 肾脏病学
题名:
复杂性疾病遗传学研究进展
其他题名: Advances in genetics of complex disease
作者: 周绪杰; 张宏
关键词: 复杂性疾病 ; 遗传学 ; 进展 ; Complex disease ; Genetics ; Advances
刊名: 国际遗传学杂志
发表日期: 2011
DOI: 10.3760/cma.j.issn.1673-4386.2011.06.010
卷: 34, 期:6, 页:338-342,347
收录类别: 中国科技核心期刊
文章类型: Journal Article
摘要: 近十年,随着人类基因组计划的建立及不断完善、遗传学队列研究和基因分型技术的日趋成熟,复杂性疾病遗传背景的研究获得了突飞猛进的发展.迄今已发现数百个与复杂性疾病存在可靠关联的遗传变异,这为我们认识复杂性疾病发病机制提供了重要线索.该文将重点回顾近十年复杂性疾病遗传学研究的进展,主要包括:人类对基因组序列和结构认识的进步,复杂性疾病研究策略、队列的进步,基因分型技术的进展,最后简要概括这些进步对于复杂性疾病遗传学研究的新贡献. Making connections between genotypic and phenotypic variation has been a great challenge for geneticists engaged in the study of human complex disease for quite a long time.However,during the past ten years,as access to more detailed information for human genome in sequence and in structure,to enormous advances in genotyping technology,and to worldwide large cohorts with certain complex traits emerged as highly successful,closing the gap between genotype and phenotype proved to be promising.Hundreds of genetic variations including common variations as well as rare ones have been consistently associated with complex diseases,which provided important clues to genetic architectures and pathogenesis of complex diseases.Here we will briefly summarize advances in genetics of complex disease within these ten years,mainly focused on the issues of human genome,strategies in genetic study,collaborative disease cohorts,genotyping and sequencing technologies and at last,the significance of these advances made to complex diseases.
语种: 中文
原文出处: 查看原文
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内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/46166
Appears in Collections:北京大学第一临床医学院_肾脏内科_期刊论文

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作者单位: 北京大学肾脏疾病研究所,卫生部肾脏疾病重点实验室,北京大学第一医院肾内科,100034

Recommended Citation:
周绪杰,张宏. 复杂性疾病遗传学研究进展[J]. 国际遗传学杂志,2011,34(6):338-342,347.
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