2023年经济学人 人类基因组与变异(1)

 

    The human genome project, which published its results 20 years ago last month, was a landmark¹ in biology.

    人类基因组计划于上个月公布了20年前的成果， 这是生物学上的一个里程碑。

    It was also somewhat misleadingly named.

    它的名字也有些误导人。

    After all, there is no such thing as “the” human genome.

    毕竟，不存在所谓的“人类基因组”。

    Instead, there are 8bn individual humans, each of whom share the vast majority of their DNA²—but not all of it.

    相反，人类有80亿人，每个人的绝大部分DNA都是相同的，但不是全部。

    The genome published by the Human Genome Project in 2003 was put together from a dozen anonymous³ blood donors⁴ in and around Buffalo⁵, in New York state.

    2003年的人类基因组计划公布的基因组是通过纽约州布法罗及其周边地区的十几个匿名献血者收集而成的。

    But there is more to life than Buffalo.

    但除了布法罗的基因组，其他生命还有更多基因组。

    That, in essence, is the motive⁶ behind the publication this week, in Nature, of a set of 47 new “reference” genomes taken from individuals on four continents (Africa, both of the Americas, and Asia).

    从本质上讲，这就是本周《自然》杂志发表的47个新“参考”基因组的动机，这些基因组来自四大洲(非洲、两个美洲和亚洲)的个体。

    The idea of the Human Pangenome Project, the organisation⁷ behind the publications, is that rather than relying on a single “reference” genome, it would be better to have several, and to ensure that between them they capture as much of the genetic⁹ diversity of Homo sapiens as possible.

    这些出版物背后的组织“人类泛基因组计划”的想法是，与其依赖单一的“参考”基因组，不如多找几个，并确保在它们之间尽可能多地捕捉到智人的遗传多样性。

    Compared with the total size of the genome, the amount of diversity in question is small.

    与基因组的总大小相比，需要讨论的多样性数量很小。

    Two people picked at random¹⁰ will share around 99.6% of their DNA.

    随机挑选的两个人的DNA大约有99.6%是相同的。

    That similarity is why the original genome produced by the Human Genome Project has proved so useful.

    正是这种相似性，证明了人类基因组计划产生的原始基因组如此有用。

    Its annotated¹¹ strings¹² of genetic code serve as a baseline.

    它将带有注释的遗传密码串作为基线。

    Other genomes can be compared with it to look for variations, whether harmful or beneficial.

    其他基因组可以与它进行比较，以寻找有害或有益的变异。

    Yet although humans are mostly alike, their differences do matter.

    然而，尽管人类在很大程度上是相似的，他们的差异仍然很重要。

    A relatively¹³ recent mutation¹⁴, for instance, means adults with ancestors from northern Europe, or some parts of India and the Middle East, are more likely to be able to digest lactose (a sugar found in milk) than those from elsewhere.

    例如，一个相对较新的突变意味着，祖先来自北欧、印度和中东部分地区的成年人比来自其他地方的人更有可能消化乳糖(牛奶中发现的一种糖)。

    Which variation deserves to be treated as the standard?

    哪一种变体应该被视为标准?

    Sometimes, the limits of using a single reference have direct medical consequences.

    有时，使用单一参考的限制会产生直接的医疗后果。

    A set of genes¹⁵ called HLA, for instance, are involved in running the immune system.

    例如，一组被称为HLA的基因参与了免疫系统的运行。

    They are highly variable, and mutations in them have been associated with autoimmune diseases such as type-1 diabetes¹⁶.

    它们是高度可变的，它们的突变与自身免疫性疾病(如1型糖尿病)有关。

    One study, published in 2015, found that, because many gene⁸-sequencing technologies are not perfectly¹⁷ accurate, comparing readouts from the region with the single reference genome led to mistakes around 20% of the time.

    2015年发表的一项研究发现，由于许多基因测序技术并不完全准确，将一个区域的读数与单个参考基因组的读数进行比较会导致20%左右的误差。

    Another paper, published in 2022, found that relying on the reference genome meant that the details of some gene variants¹⁸ found in people with African ancestry¹⁹, and seemingly associated with cancer, are poorly understood.

    2022年发表的另一篇论文发现，依赖该参考基因组意味着，人们对非洲血统人群中发现的一些基因变异的细节知之甚少，这些基因变异似乎与癌症有关。

1 landmark   

n.陆标，划时代的事，地界标

参考例句：

• The Russian Revolution represents a landmark in world history.俄国革命是世界历史上的一个里程碑。
• The tower was once a landmark for ships.这座塔曾是船只的陆标。

2 DNA   

(缩)deoxyribonucleic acid 脱氧核糖核酸

参考例句：

• DNA is stored in the nucleus of a cell.脱氧核糖核酸储存于细胞的细胞核里。
• Gene mutations are alterations in the DNA code.基因突变是指DNA密码的改变。

3 anonymous   

adj.无名的；匿名的；无特色的

参考例句：

• Sending anonymous letters is a cowardly act.寄匿名信是懦夫的行为。
• The author wishes to remain anonymous.作者希望姓名不公开。

4 donors   

n.捐赠者( donor的名词复数 )；献血者；捐血者；器官捐献者

参考例句：

• Please email us to be removed from our active list of blood donors. 假如你想把自己的名字从献血联系人名单中删去，请给我们发电子邮件。
• About half this amount comes from individual donors and bequests. 这笔钱大约有一半来自个人捐赠及遗赠。 来自《简明英汉词典》

5 buffalo   

n.(北美)野牛；(亚洲)水牛

参考例句：

• Asian buffalo isn't as wild as that of America's. 亚洲水牛比美洲水牛温顺些。
• The boots are made of buffalo hide. 这双靴子是由水牛皮制成的。

6 motive   

n.动机，目的；adv.发动的，运动的

参考例句：

• The police could not find a motive for the murder.警察不能找到谋杀的动机。
• He had some motive in telling this fable.他讲这寓言故事是有用意的。

7 organisation   

n.组织，安排，团体，有机休

参考例句：

• The method of his organisation work is worth commending.他的组织工作的方法值得称道。
• His application for membership of the organisation was rejected.他想要加入该组织的申请遭到了拒绝。

8 gene   

n.遗传因子，基因

参考例句：

• A single gene may have many effects.单一基因可能具有很多种效应。
• The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。

9 genetic   

adj.遗传的，遗传学的

参考例句：

• It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
• Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。

10 random   

adj.随机的；任意的；n.偶然的(或随便的)行动

参考例句：

• The list is arranged in a random order.名单排列不分先后。
• On random inspection the meat was found to be bad.经抽查，发现肉变质了。

11 annotated   

v.注解，注释( annotate的过去式和过去分词 )

参考例句：

• Thematic maps should always be annotated with the source and date of the topical information. 各类专题地图，均应注明专题资料来源和日期。 来自辞典例句
• And this is the version annotated by Umberto de Bologna. 并且这是有安博多-德-波罗格那注释的版本。 来自电影对白

12 strings   

n.弦

参考例句：

• He sat on the bed,idly plucking the strings of his guitar.他坐在床上，随意地拨着吉他的弦。
• She swept her fingers over the strings of the harp.她用手指划过竖琴的琴弦。

13 relatively   

adv.比较...地，相对地

参考例句：

• The rabbit is a relatively recent introduction in Australia.兔子是相对较新引入澳大利亚的物种。
• The operation was relatively painless.手术相对来说不痛。

14 mutation   

n.变化，变异，转变

参考例句：

• People who have this mutation need less sleep than others.有这种突变的人需要的睡眠比其他人少。
• So far the discussion has centered entirely around mutation in the strict sense.到目前为止，严格来讲，讨论完全集中于围绕突变问题上。

15 genes   

n.基因( gene的名词复数 )

参考例句：

• You have good genes from your parents, so you should live a long time. 你从父母那儿获得优良的基因，所以能够活得很长。 来自《简明英汉词典》
• Differences will help to reveal the functions of the genes. 它们间的差异将会帮助我们揭开基因多种功能。 来自英汉非文学 - 生命科学 - 生物技术的世纪

16 diabetes   

n.糖尿病

参考例句：

• In case of diabetes, physicians advise against the use of sugar.对于糖尿病患者，医生告诫他们不要吃糖。
• Diabetes is caused by a fault in the insulin production of the body.糖尿病是由体內胰岛素分泌失调引起的。

17 perfectly   

adv.完美地，无可非议地，彻底地

参考例句：

• The witnesses were each perfectly certain of what they said.证人们个个对自己所说的话十分肯定。
• Everything that we're doing is all perfectly above board.我们做的每件事情都是光明正大的。

18 variants   

n.变体( variant的名词复数 )；变种；变型；（词等的）变体

参考例句：

• Those variants will be preserved in the'struggle for existence". 这些变异将在“生存竞争”中被保留下来。 来自辞典例句
• Like organisms, viruses have variants, generally called strains. 与其他生物一样，病毒也有变种，一般称之为株系。 来自辞典例句

19 ancestry   

n.祖先，家世

参考例句：

• Their ancestry settled the land in 1856.他们的祖辈1856年在这块土地上定居下来。
• He is an American of French ancestry.他是法国血统的美国人。