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人类基因组测序的竞赛

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Packed inside every cell in your body is a set of genetic instructions, 3.2 billion base pairs long.

我们身体每一个细胞里都有一组长达32亿组碱基对的遗传指令。
Deciphering these directions would be a monumental task but could offer unprecedented insight about the human body.
要解读这些指令是一项无比艰巨的任务,但对我们了解自身有着深远的意义。
In 1990, a consortium of 20 international research centers
1990年,由20个国际研究中心组成的合作团队
embarked on the world's largest biological collaboration to accomplish this mission.
开始着手完成这项全世界最浩大的生物工程。
The Human Genome Project proposed to sequence the entire human genome over 15 years with $3 billion of public funds.
人类基因组项目预测这项基因测序工程需要长达15年的时间,耗资30亿美元。
Then, seven years before its scheduled completion,
然而,在项目预计完成的7年前,
a private company called Celera announced that they could accomplish the same goal in just three years and at a fraction of the cost.
一个叫做Celera的私人企业宣布他们可以用更少的资金,在三年内就完成这一项目。
The two camps discussed a joint venture,
这两个团队曾试图展开合作,
but talks quickly fell apart as disagreements arose over legal and ethical issues of genetic property.
但是谈判最终因为对研究结果在法律和伦理上的分歧而失败。
And so the race began. Though both teams used the same technology to sequence the entire human genome,
于是他们之间的竞争开始了。尽管两个团队在基因测序方面采用了同样的技术手段,
it was their strategies that made all the difference.
他们测序的策略却截然不同。
Their paths diverged in the most critical of steps: the first one.
他们在最关键性的步骤有很大的差异:也就是第一个步骤。
In the Human Genome Project's approach, the genome was first divided into smaller, more manageable chunks
人类基因组计划的方案是把整个基因图谱分为更小,更易操作的片段,
about 150,000 base pairs long that overlapped each other a little bit on both ends.
每个片段都由15万个碱基对组成,相邻片段首尾均存在小部分重叠。
Each of these fragments of DNA was inserted inside a bacterial artificial chromosome where they were cloned and fingerprinted.
每个DNA片段都被注入到人工培育的细菌染色体中,并被复制,从而获得指纹谱图。
The fingerprints showed scientists where the fragments overlapped without knowing the actual sequence.
指纹图谱可以向科学家们展现那些未知序列中的重叠部分。
Using the overlapping bits as a guide,
利用这些重叠的小片段作为线索,
the researchers marked each fragment's place in the genome to create a contiguous map, a process that took about six years.
研究者们在染色体中对各个片段做记号,以获得一幅延续性的图谱,这个过程持续了六年之久。
The cloned fragments were sequenced in labs around the world following one of the project's two major principles:
全世界所有对这些基因片段进行测序的实验室都遵循着以下两项准则:
that collaboration on our shared heritage was open to all nations.
研究成果属于全人类,并且对世界各国公开。
In each case, the fragments were arbitrarily broken up into small, overlapping pieces about 1,000 base pairs long.
所有实验中,基因片段都被任意分割为更小的、有重叠部分的1000个碱基对。

人类基因组测序的竞赛

Then, using a technology called the Sanger method, each piece was sequenced letter by letter.

随后,他们运用“桑格测序法”将每个片段内的碱基进行逐一测序。
This rigorous map-based approach called hierarchical shotgun sequencing minimized the risk of misassembly,
这一严格的图谱测序法被称作“分级散弹枪测序法”,可以将错误组合风险降至最低,
a huge hazard of sequencing genomes with many repetitive portions, like the human genome.
这些重复组合的基因有着巨大风险,例如人类基因组。
The consortium's 'better safe than sorry' approach contrasted starkly with Celera's strategy called whole genome shotgun sequencing.
人类基因组计划的这项“宁稳妥,勿遗憾”的原则,与Celera公司的“全基因组散弹枪测序法”形成鲜明对比。
It hinged on skipping the mapping phase entirely, a faster, though foolhardy, approach according to some.
因为Celera公司完全跳过图谱阶段,在有些人看来这是一个有勇无谋的策略。
The entire genome was directly chopped up into a giant heap of small, overlapping bits.
他们将整个基因组直接切成许多小而重叠的片段。
Once these bits were sequenced via the Sanger method,
一旦这些小片段完成“桑格测序”,
Celera would take the formidable risk of reconstructing the genome using just the overlaps.
Celera公司会采取风险极高的方法,也就是用那些重叠部分来直接重组基因。
But perhaps their decision wasn't such a gamble because guess whose freshly completed map was available online for free?
可或许他们的策略并非是一场豪赌,因为猜猜看是谁首先完成可以在网上免费获得的图谱呢?
The Human Genome Consortium, in accordance with the project's second major principle
人类基因组计划研究中的第二项准则是,
which held that all of the project's data would be shared publicly within 24 hours of collection.
要将研究中所收集的资料在24小时之内公布于众。
So in 1998, scientists around the world were furiously sequencing lines of genetic code using the tried and true, yet laborious, Sanger method.
因此1998年,世界各国的科学家运用实践证明过的“桑格测序法”,对各种遗传基因展开“疯狂”的测序。
Finally, after three exhausting years of continuous sequencing and assembling, the verdict was in.
最终,经过3年艰苦漫长的测序和重组,比赛有结果了。
In February 2001, both groups simultaneously published working drafts of more than 90% of the human genome,
2001年二月的时候,双方同时发布了超过90%的人类基因组草图,
several years ahead of the consortium's schedule. The race ended in a tie.
都比原先预测的进度早了好几年。比赛打平了。
The Human Genome Project's practice of immediately sharing its data was an unusual one.
人类基因组计划这种及时分享数据的做法并不常见。
It is more typical for scientists to closely guard their data until they are able to analyze it and publish their conclusions.
科学家们更倾向于在他们可以分析并且发布结果的时候再公布研究数据。
Instead, the Human Genome Project accelerated the pace of research
然而,人类基因组计划的这种做法加速了研究过程,
and created an international collaboration on an unprecedented scale.
并且促成了研究领域一项空前的国际合作。
Since then, robust investment in both the public and private sector
自此,在公共和私人领域的研究得到深入开发,
has led to the identification of many disease related genes and remarkable advances in sequencing technology.
使很多与基因相关的疾病得以被检测出来,同时测序方法也被不断完善。
Today, a person's genome can be sequenced in just a few days.
如今,一个人的全部基因测序只需要几天就能完成。
However, reading the genome is only the first step.
但是,能够解读基因只是第一步而已。
We're a long way away from understanding what most of our genes do and how they are controlled.
要了解大多数基因的功能以及它们是如何被控制的,我们还有很漫长的路要走。
Those are some of the challenges for the next generation of ambitious research initiatives.
这些工作将要交给我们下一代充满进取心的研究者来完成了。

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typical ['tipikəl]

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adj. 典型的,有代表性的,特有的,独特的

 
joint [dʒɔint]

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adj. 联合的,共同的,合资的,连带的
n.

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related [ri'leitid]

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adj. 相关的,有亲属关系的

 
unprecedented [ʌn'presidəntid]

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adj. 空前的,前所未有的

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simultaneously [saiməl'teiniəsli]

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genome ['dʒi:nəum]

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n. [生]基因组;[生]染色体组

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