The Ghost In Your Genes - 3 基因外遗传现象

Named after Henry Angelman, the pediatrician who first described Angelman syndrome¹. He referred to them as happy puppet children because it described, to some extent, the features. They have a rather jerky sort of movement when they are walking. These children have no speech. They are severely² incapacitated in terms of learning, but are uncharacteristically happy as they are smiling all the time.

The condition was caused by a genetic³ fault: a key sequence of DNA⁴ was missing, deleted from Chromosome⁵ 15.

Then we came across a paradox⁶: at the same time, er, the same change, the same little deletion of Chromosome 15 had been clearly associated with a quite different syndrome, much milder in terms of, er, of intellectual impairment, the Prader-Willi syndrome. These children are characterized by being very floppy⁷ at birth, but once they started eating properly and so on, they then had an insatiable appetite and would get very, very large.

What Pembrey saw simply made no sense. Here were two completely different diseases, Angelman syndrome and Prader-Willi syndrome being caused by exactly the same genetic fault.

So here we're in a bizarre situation really, how could we have proposed that the same deletion could cause a, a different syndrome?

It appeared to Pembrey as if the simple view of inheritance was beginning to unravel⁸, but his doubts were contrary to the tide of optimism sweeping⁹ the scientific community. In the early 1990s, the biggest project ever undertaken in biology was captivating the world.

The Human Genome Project will be seen as the outstanding achievement in the history of mankind.

The Human Genome Project was to be the pinnacle¹⁰ of a century of work on genes¹¹ and genetics. It seemed as if the secrets of life were at our fingertips.

The genetic blueprint¹² of mankind...

Nothing else, merely the whole human genetic code is a set of instructions to make a human being.

Human genome is like a Bible where everything was written down. The hope and the expectation was that once we had that book in front of us, and all the letters we could just read down the pages, and we would understand how the body was put together.

It would offer a complete understanding of human biology at a molecular¹³ level. The hope was that once the code was written down, scientists could find the genetic cause and cure for every disease.

New Words & Phrases:

pediatrician : A pediatrician is a doctor who specializes in treating sick children. AM(=paediatrician) 小儿科医师

chromosome : A chromosome is a part of a cell in an animal or plant. It contains genes which determine what characteristics the animal or plant will have. 【生】染色体

floppy : Something that is floppy is loose rather than stiff, and tends to hang downwards¹⁴. 松软的;懒散的;下垂的

bizarre : Something that is bizarre is very odd and strange. 奇异的;异乎寻常的

genetic blueprint : A genetic blueprint is a pattern which is contained within all living cells. This pattern decides how the organism develops and what it looks like. eg. The offspring contain a mixture of the genetic blueprint of each parent...

1 syndrome   

n.综合病症；并存特性

参考例句：

• The Institute says that an unidentified virus is to blame for the syndrome. 该研究所表示,引起这种综合症的是一种尚未确认的病毒。
• Results indicated that 11 fetuses had Down syndrome. 结果表明有11个胎儿患有唐氏综合征。

2 severely   

adv.严格地；严厉地；非常恶劣地

参考例句：

• He was severely criticized and removed from his post.他受到了严厉的批评并且被撤了职。
• He is severely put down for his careless work.他因工作上的粗心大意而受到了严厉的批评。

3 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。

4 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。

5 chromosome   

n.染色体

参考例句：

• Chromosome material with exhibits of such behaviour is called heterochromatin.表现这种现象的染色体物质叫做异染色质。
• A segment of the chromosome may become lost,resulting in a deletion.染色体的一个片段可能会丢失，结果产生染色体的缺失。

6 paradox   

n.似乎矛盾却正确的说法；自相矛盾的人(物)

参考例句：

• The story contains many levels of paradox.这个故事存在多重悖论。
• The paradox is that Japan does need serious education reform.矛盾的地方是日本确实需要教育改革。

7 floppy   

adj.松软的，衰弱的

参考例句：

• She was wearing a big floppy hat.她戴了顶松软的大帽子。
• Can you copy those files onto this floppy disk?你能把那些文件复制到这张软盘上吗？

8 unravel   

v.弄清楚（秘密）；拆开，解开，松开

参考例句：

• He was good with his hands and could unravel a knot or untangle yarn that others wouldn't even attempt.他的手很灵巧，其他人甚至都不敢尝试的一些难解的绳结或缠在一起的纱线，他都能解开。
• This is the attitude that led him to unravel a mystery that long puzzled Chinese historians.正是这种态度使他解决了长期以来使中国历史学家们大惑不解的谜。

9 sweeping   

adj.范围广大的，一扫无遗的

参考例句：

• The citizens voted for sweeping reforms.公民投票支持全面的改革。
• Can you hear the wind sweeping through the branches?你能听到风掠过树枝的声音吗？

10 pinnacle   

n.尖塔，尖顶，山峰；(喻)顶峰

参考例句：

• Now he is at the very pinnacle of his career.现在他正值事业中的顶峰时期。
• It represents the pinnacle of intellectual capability.它代表了智能的顶峰。

11 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

12 blueprint   

n.蓝图，设计图，计划；vt.制成蓝图，计划

参考例句：

• All the machine parts on a blueprint must answer each other.设计图上所有的机器部件都应互相配合。
• The documents contain a blueprint for a nuclear device.文件内附有一张核装置的设计蓝图。

13 molecular   

adj.分子的；克分子的

参考例句：

• The research will provide direct insight into molecular mechanisms.这项研究将使人能够直接地了解分子的机理。
• For the pressure to become zero, molecular bombardment must cease.当压强趋近于零时，分子的碰撞就停止了。

14 downwards   

adj./adv.向下的（地），下行的（地）

参考例句：

• He lay face downwards on his bed.他脸向下伏在床上。
• As the river flows downwards,it widens.这条河愈到下游愈宽。