人类基因组的序列
J C Venter1, M D Adams, E W Myers
1Celera Genomics, 45 West Gude Drive, Rockville, MD 20850, USA. humangenome@celera.com
Science (New York, N.Y.)
|February 22, 2001
概括
人类基因组序列揭示了超过38,000个编码蛋白质的转录和数百万个单核酸多态 (SNP),为进化和疾病提供了洞察力. 这份全面的人类基因组图为未来的遗传研究提供了基础.
科学领域:
- 基因组学就是基因组学.
- 人类遗传学 人类遗传学
- 分子生物学分子生物学
背景情况:
- 人类基因组项目旨在对整个人类基因组进行测序.
- 了解人类基因组对于医学和生物学进步至关重要.
研究的目的:
- 为了生成人类基因组的高颜色部分的高质量,全面的序列.
- 识别蛋白质编码转录和基因变异,如单核酸多态 (SNP).
主要方法:
- 来自五个个体的DNA的全基因组猎枪测序.
- 结合了来自Celera和公共基因组工作的测序数据,使用了两种组装策略.
- 对序列的分析有助于基因识别和SNP发现.
主要成果:
- 人类基因组的2.91亿个基因对 (bp) 共识序列被生成.
- 鉴定了26588个具有强有力的证据的蛋白质编码转录和约12,000个额外的预测基因.
- 发现了210万个单核酸多态 (SNP),显示出显著的基因组异质性.
结论:
- 生成的人类基因组序列有效地覆盖了 euchromatic 区域,并提供了一个详细的地图.
- 这些发现揭示了基因分布,非编码DNA,细分重复和进化史.
- 识别了许多SNP,为研究人类遗传变异及其功能后果提供了资源.
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