人生无常,喜乐随缘。
英文原文:
Nature 456, 420 (20 November 2008) | DOI: 10.1038/456420a; Published online 19 November 2008
Birthday surprises
Erika Cule [Erika Cule is a recent graduate in biochemistry from Imperial College, London. This article was the winning adult entry in the Daily Telegraph/Bayer 2008 Young Science Writers competition (http://www.science-writer.co.uk) and is reproduced courtesy of The Daily Telegraph.]Now you are 16.
Strains of Happy Birthday greeted me from the kitchen.
"... Happy Birthday dear Elizabeth, Happy Birthday to you!"
I grinned and embraced my father. "Many happy returns, love," he said. He ruffled my hair affectionately. "Sweet sixteen, quite something."
Grandma beckoned from her armchair. "Come and give your Nan a kiss."
I rushed to hug her. She tried to hide a wince as I brushed against her scars. "Your future should be in your inbox now," she said, with a nod towards my laptop. "I asked for it to be delivered this morning."
Thoughts of my father's gift forgotten, I snatched up my machine and made for our neighbourhood coffee shop. I needed some privacy while I studied what life had in store. Installed on a sofa with a coffee, I logged on. Among the dozens of birthday greetings was the message from Email: sequencing@545.com.
Subject: Your Complete Genome Sequence
Birthday Greetings, Elizabeth.
Thank you for ordering Your Complete Genome Sequence High-Quality Version from 545.com. Our Annotation Service supplies a detailed genotype analysis. We analysed more than 6 million single nucleotide polymorphisms, alongside mini- and micro-satellites, deletions, inversions and copy number variations. We report known phenotypic associations, together with significance levels. All associations reference peer-reviewed publications and are cross-referenced to GenBank and Online Mendelian Inheritance in Man where relevant.Your annotated sequence has been uploaded to the Worldwide Depository of Genomes. It can be identified by your unique GenomeID, which you are free to distribute to potential employers, insurers or acquaintances, at your discretion.
I caught my breath and took a gulp of coffee. I had been waiting for this since 545 launched its service two years ago. My grandmother, a geneticist by training, was as excited as I was about reading my future.I opened the Annotation file.
Personality and Aptitudes
I sought out the details I needed.
Estimated IQ: 138.
Critical and Analytical Ability: Ninety-eighth percentile
Next term's university application form did not yet have a space for GenomeID. However, it would not hurt to drop it into my Personal Statement to illustrate my curiosity about genetics. I knew that Imperial College London would have no qualms about checking my academic potential in the Depository. They would not be disappointed.
I ordered a muffin and skipped through to 'Metabolic Diseases'. Unsurprisingly, a set of seven SNPs inferred a haplotype strongly associated with type 2 diabetes. With three of my grandparents, together with the obese half of the population, now falling into that category, the emerging consensus among endocrinologists was that the condition represented the wild-type genotype of the twenty-first century. I pinched my waistline. The muffin lost its appeal.
Appearance: Homozygosity for the BN4 allele, associated with poorly regulated cartilage formation in the nasal region.
Advertisements for rhinoplasty scrolled across the bottom of the screen. Idly, I clicked on one, wondering whether surgery would have time to heal before university started. If you cannot change nature, nurture would be on hand to help out.
'Oncogenes and Late Onset Disorders' did not surprise me in reporting homozygosity for a particular variant in BRCA2. My grandmother had been one of the last patients to be treated surgically, a decade ago. The latest treatment was injected engineered leukocytes that homed in on metabolically hyperactive tumours and restricted angiogenesis, claiming to 'starve your tumours before they consume you'. This was the technology that inspired me to apply for the 'Nanobots and Cellular Machines' course at Imperial, which was refining the method and developing more applications. I drifted into a daydream where I was head of a spin-out from Imperial Innovations, jetting to conferences with a briefcase of nanobots.
My cellphone buzzed — Dad, reminding me about our lunch date. I had been absorbed in my future for the entire morning. It did not look too bad. No Huntington's, no Alzheimer's, no severe immune defects.
No nasty genetic surprises.
I handed a five-euro note to the barista. "Keep the change," I smiled.
"What's the good news?" He raised an eyebrow flirtatiously.
"I'm not going to get struck down by an inheritable disorder anytime soon."
"Fantastic," he mused, "although everyone's got to die sometime."
The receipt he gave me had something scrawled at the bottom. I squinted as I stepped out of the coffee shop and into the sunlight. It was a telephone number. Maybe my poorly regulated nasal cartilage was not so bad.
Neither he, I nor my genome noticed the oncoming bus.
Erika Cule 著 田不野 译
今天,你十六岁。
******
“祝你生日快乐~“,一串歌声从厨房里飘来,渐行渐近。“我亲爱的伊丽莎白,祝你生日快乐”。
我开心地笑得咧开了嘴,走过去抱住了爸爸。“你又长大了一岁,宝贝。“他深情地拨弄了一下我的头发,“十六岁了,你现在是个大人了。”
奶奶坐在她的老扶手椅上,向我招手:“来,和奶奶亲一个。”我冲过去给她一个大大的拥抱,以至于好像弄疼了她的伤口。“你的未来将预示在这个小盒子里面。”她敲了一下我的小笔记本,“我让他们今天早上发送的。”
我还以为家人忘记了我的生日礼物了呢。我抓起我的电脑,向隔壁的咖啡店跑去。我需要一点私密空间,来研究我的未来生活。窝在咖啡店的沙发里面,我先要了一杯咖啡,打开了电脑。在一堆生日祝福的邮件当中,我找到了那封从sequencing@545.com发来的邮件。信头:您的全基因组序列
伊丽莎白,生日快乐!
感谢您从545.com订购YCGSHQV(个 人全基因组序列高质量版本),我们的注释服务将为您提供详尽的基因型评估报告。根据超过六百万个单核苷酸,微卫星,小卫星基因的多态性,以及基因缺失,反 转和拷贝数变化的分析结果,。这份报告包括了您的基因型和已知表现形之间的相关性,和相关性的显著性水平。所有的相关性都来自经过同行评审的科学论文,并 与GenBank和OMIM(在线人类孟德尔遗传数据库)中数据相互参照。使用您独一的基因组号登录,您可以查询世界基因组保存库中您的基因组信息。请谨慎地将你的基因组信息告知你未来的雇主,保险业者和亲朋好友。
我紧张地屏住了呼吸,端起杯子小啄了一口。自从545公司两年前开设这个服务以来,我一直在期盼着能看到我的基因组报告。我的奶奶,那个曾经是遗传学家的奶奶,和我一样兴奋,一样期盼着能“读”到我的未来。
我点击打开了注释文件。
性格和特质
这正是我所想要找的东西。
估计智商:138
判断和分析能力:98分(百分制)
高考报名表还不用添基因组号,但是这并不妨碍我把它写到我的自荐信里面,让考官们了解我对人类遗传学的强大兴趣。我知道伦敦帝国理工肯定会去基因组保存库查我的学术潜力,而且他们一定不会失望的。
我又要了一块松饼,把内容下拉到“代谢相关疾病“。果然,有七个单核苷酸的多态性表明一个单体型跟二型糖尿病强烈相关。我的四个奶奶辈的亲戚中的三个,和当今社会上一半的人,都要被归到此类中。内分泌学家们都达成新的共识,肥胖人群根本就是二十一世纪的野生基因型。
我捏了捏腰上的肉,那块松饼也没有那么大的吸引力了。
表现型:BN4纯合,伴随有鼻软骨严重失调。
屏幕下滚出一堆鼻整形术的广告。我随手点了一个,看看有没有时间在上大学之前把这个手术给做了。先天不足,后天加油好了。
“致癌基因和迟发性障碍症“被写在BRCA2基 因纯合特殊变体的报告中,这倒没让我吃惊,我的奶奶当年就是最后几个接受此类手术治疗的病人之一,那是大概在二十年以前的事了。现在最先进的治疗手段是通 过植入人工修饰过的白血球,整合到代谢作用极度活跃的肿瘤中,限制血管的生成,它的口号是“再涨,再涨,再涨就饿死你“。正是这个技术让我打算选在帝国理 工开设的一门课——“纳米机器人和细胞工学“,这门课上会详细介绍这个技术和它的扩展应用。我梦想着成为帝国理工创新中心一个分部的头头,冲进会议室,公 文包里面满满地都是纳米机器人。
我的手机响了-是老爸,让我回家吃午饭了。整一个早上,我都沉醉在”阅读“我的未来之中,这个未来看起来还不错,没有亨廷顿慢性舞蹈症,没有阿尔兹海默老年痴呆症,没有严重的免疫缺陷,没有让人伤心的遗传突变。
我给了五块钱给那个咖啡师,“不用找了”,我冲他一笑。
“遇到什么好事情了?”他抬抬眉毛,回我一个可爱的微笑。
“预言书上说,我近期内不会遇到什么遗传病。“
“太棒了。”他揶揄道,“虽然人都会死的。”
他给我帐单的时候,塞了点东西在下面。当我从咖啡店里从到阳光下的时候,我偷偷地看了一眼,是一个电话号码。我那严重失调鼻软骨也没那么糟嘛。
这个时候,他,我,甚至我的基因们,都没有发现,一辆大巴正朝我快速冲来……
忽然间,想起了另外一个新出了小说书的博后……
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