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人类基因组中哈普洛型块的结构
Stacey B Gabriel1, Stephen F Schaffner, Huy Nguyen
1Whitehead/MIT Center for Genome Research, Cambridge, MA 02139, USA.
Science (New York, N.Y.)
|May 25, 2002
概括
研究人员在多种不同的人群中绘制了人类基因组单元型模式. 这揭示了结构化的单元型块,对于强大的遗传关联研究和疾病基因发现至关重要.
科学领域:
- 基因组学就是基因组学.
- 人口遗传学 人口遗传学
- 人类遗传学 人类遗传学
背景情况:
- 基于哈普洛型的方法对于疾病基因映射至关重要,因为它将突变与祖先的哈普洛型联系起来.
- 了解全基因组的单双型模式对于识别人类疾病中的遗传因素至关重要.
研究的目的:
- 在不同的人群中,在人类基因组中表征单元型模式.
- 评估哈普洛型框架对协会研究的有用性.
主要方法:
- 分析了来自非洲,欧洲和亚洲样本的51个自体区域 (13 Mb) 的单双型模式.
- 鉴定和表征哈普洛型块及其边界.
- 使用哈普洛型框架的协会研究中的统计能力评估.
主要成果:
- 人类基因组可以客观地被划分为具有有限的重组的不同类型块.
- 在这些区块中,少量常见的单元类型普遍存在.
- 哈普洛型块结构和特定的哈普洛型在不同种群中显示出高度的相关性.
- 哈普洛型框架显著提高了对常见遗传变异的关联研究的统计能力.
结论:
- 哈普洛型块代表了人类基因组历史重组的基本单位.
- 这些结构化单元型模式为遗传关联研究提供了强大的资源.
- 这些发现为全面的人类基因组哈普洛型地图奠定了基础,以加速疾病基因发现.
相关概念视频
00:58Genomic DNA in Eukaryotes
Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
01:16The DNA Helix
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02:07Organization of Genes
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01:16The DNA Helix
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02:07Organization of Genes
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01:07The DNA Helix
Deoxyribonucleic acid, or DNA, is the genetic material responsible for passing traits from generation to generation in all organisms and most viruses. DNA is composed of two strands of nucleotides that wind around each other to form a spring-like structure called a double helix. However, the double helix is not perfectly symmetrical. Instead, there are regularly occurring grooves in the structure. The major groove occurs where the sugar-phosphate backbones are relatively far apart. This space...