根据区域和全基因组关联,绘制人类基因表达的决定因素
Vivian G Cheung1, Richard S Spielman, Kathryn G Ewens
1Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. vcheung@mail.med.upenn.edu
Nature
|October 28, 2005
概括
这项研究使用单核酸多态 (SNP) 映射来确定影响基因表达的遗传变异. 关联分析证实了联系的发现,并确定了监管区域,有助于复杂特征研究.
科学领域:
- 遗传学 是一个遗传学.
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 了解基因表达自然变异的遗传基础至关重要.
- 之前的全基因组链接分析绘制了大约1000个表达表现型的决定因素.
研究的目的:
- 使用密集的单核酸多态 (SNP) 标记器进行关联分析,以改进基因表达的遗传决定因素.
- 验证联系发现并确定候选监管区域.
- 探索复杂特征的全基因组关联研究 (GWAS) 的实用性.
主要方法:
- 使用来自国际HapMap项目的密集SNP标记器的关联分析.
- 针对374种表型,在有强烈联系证据的地区进行了有针对性的关联研究.
- 进行了全基因组关联分析,使用超过77万个标记物对27种表型的子集进行了分析.
- 对候选决定性进行了功能分析,以确认监管活动.
主要成果:
- 关联分析证实了联系结果,并缩小了许多表型的候选监管区域.
- 全基因组关联分析确定了大约50%的表型的显著基因位点,与基因组扫描一致.
- 功能分析证实了候选决定因素的 cis 作用调节变异.
结论:
- 使用密集SNP图的关联研究有效地确认和完善基因表达的遗传决定因素.
- 这些方法可以识别易感位置和其他导致复杂特征和疾病的遗传因素.
- 这些发现强调了结合链接和关联研究的力量,以剖析复杂特征的遗传结构.
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