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  • 人类基因组

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    Vitruvian Man
    ::维特鲁维人

    The drawing above, named  Vitruvian Man , was created by Leonardo da Vinci in 1490. It was meant to show normal proportions. Vitruvian Man is used today to represent a different approach to the human body. It symbolizes a scientific research project that began in 1990, exactly 500 years after  da Vinci created the drawing. That project, called the , is the largest collaborative biological research project ever undertaken.
    ::上述图画名为维特鲁维昂曼,由莱昂纳多·达芬奇(Leonardo da Vinci)于1490年创建,旨在显示正常比例。维特鲁维昂曼今天被用来代表对人体的一种不同的方法。它象征着1990年开始的科学研究项目,在达芬奇(da Vinci)创建了绘画后整整500年。 这个项目被称为“ ” , 是有史以来最大的合作生物学研究项目。

    What Is the Human Genome?
    ::什么是人类基因组?

    The human genome  refers to a ll the of the human . Human DNA consists of 3.3 billion base pairs, and it is divided into more than 20 thousand genes on 23 . Humans inherit one set of chromosomes from each parent. So there are actually two copies of each of those 20,000 genes. The human genome also includes noncoding sequences of DNA, as shown in the figure .
    ::人类基因组指所有人类基因组。人类基因组由33亿对基对组成,在23岁时分为2万多个基因组。人类继承了每对父母的一套染色体。因此,这20,000个基因中,每个基因组有两份。人类基因组还包括DNA的非编码序列,如图所示。

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    Human Genome, Chromosomes, and Genes. Each chromosome of the human genome contains many genes, as well as noncoding intergenic (between genes) regions. Each pair of chromosomes is shown here in a different color.
    ::人类基因组、 染色体和基因。 人类基因组的每一种染色体都包含许多基因, 以及非编码( 基因区域之间 ) 。 每对染色体以不同颜色显示 。

     

    Discovering the Human Genome
    ::发现人类基因组

    Scientists now know the sequence of all the DNA base pairs in the entire human genome. This knowledge was attained by the Human Genome Project (HGP),  a $3 billion, international scientific research project that was formally launched in 1990. The project was completed in 2003, two years ahead of its 15-year projected deadline.
    ::科学家们现在知道整个人类基因组中所有DNA基对的顺序,这一知识是通过人类基因组项目(HGP)获得的,这是一个30亿美元的国际科学研究项目,于1990年正式启动,于2003年完成,比15年的预计最后期限提前了两年。

    Determining the sequence of the billions of base pairs that make up human DNA was the main goal of the HGP. Another goal was to map  the location and determine  the function of all the genes in the human genome. A somewhat surprising finding of the HGP is the relatively small number of human genes. There are only about 20,500 genes in human beings. This may sound like a lot, but it's about the same number as in mice. Another surprising finding of the HGP is the large number of nearly identical, repeated DNA segments in the human genome. This number was previously believed  to be much smaller.
    ::确定构成人类DNA的数十亿对基对的序列是HGP的主要目标。另一个目标是绘制人类基因组中所有基因的位置并确定其功能。HGP的一个令人惊讶的发现是人类基因数量相对较少。人类的基因数量大约只有20,500个。这听起来像很多,但与小鼠的数量差不多。HGP的另一个令人惊讶的发现是人类基因组中大量几乎相同、重复的DNA部分。这个数字以前被认为小得多。

    A Collaborative Effort
    ::协作努力

    Funding for the HGP came from the U.S. Department of Energy and the National Institutes of Health, as well as from foreign institutions. The actual research was undertaken by scientists in 20 universities in the U.S., United , Australia, France, Germany, Japan, and China. A private U.S. company named Celera also contributed to the effort. Although Celera had hoped to patent some of the genes it discovered, this was later denied. The entire DNA sequence of the genome is stored in databases that are available to anyone on the Internet. Additional data and tools for analyzing the human genome are also available online.
    ::为HGP提供的资金来自美国能源部和国家卫生研究所以及外国机构,实际研究是由美国、美国、澳大利亚、法国、德国、日本和中国的20所大学的科学家进行的,一家名为Celera的美国私营公司也为这项工作作出了贡献。虽然Celera希望对它发现的一些基因进行专利,但后来却被拒绝了。基因组的全部DNA序列都储存在互联网上任何人都可以使用的数据库中,还有用于分析人类基因组的其他数据和工具。

    Reference Genome of the Human Genome Project
    ::人类基因组项目参考基因组

    In 2003, the HGP published the results of its sequencing of DNA as a human reference genome. The reference genome sequences a full set of , but it clearly doesn't represent the sequence of every human individual's genome. Instead, it is the combined mosaic of a small number of anonymous donors. The DNA that was sequenced came from samples of the female donors and samples of the male donors. All of the donors were of European origin , and m ore  than 70 percent of the reference DNA came from a single anonymous male donor from Buffalo, New York. Identities of all the donors  were protected so neither they nor the researchers could know whose DNA was sequenced.
    ::2003年,HGP公布了其DNA排序结果,作为人类参考基因组。参考基因组排列了全套基因组,但显然并不代表每个人基因组的顺序。相反,它是少数匿名捐赠者的组合组合。DNA来自女性捐赠者的样本和男性捐赠者的样本。所有捐赠者来自欧洲,超过70%的参考DNA来自纽约Buffalo的单一匿名男性捐赠者。所有捐赠者的身份都受到保护,因此他们和研究人员都无法知道DNA的序列。

    Subsequent projects have sequenced the genomes of multiple distinct ethnic groups. Ongoing research is searching base by base for variations in the sequence. However, there is still only one reference genome available.
    ::随后的项目对多个不同族裔群体的基因组进行了排序,正在进行的研究正在以基数为基础,寻找序列的变化情况,然而,仍然只有一个参考基因组可供使用。

    Benefits of the Human Genome Project
    ::人类基因组项目的益处

    The sequencing of the human genome has  benefits for many fields, including molecular medicine and human evolution.
    ::人类基因组的测序对包括分子医学和人类进化在内的许多领域都有益处。

    • Knowing the human DNA sequence can help us understand many human diseases. For example, it is helping  researchers  identify linked to different forms of . It is also yielding insights into the genetic basis of cystic fibrosis , liver diseases, blood-clotting disorders, and Alzheimer's disease , among others.
      ::了解人类DNA序列可以帮助我们了解许多人类疾病。例如,它帮助研究人员识别与不同形式相关联的疾病。它也使人们深入了解细胞纤维化、肝脏疾病、血清分布紊乱和阿尔茨海默氏病等的遗传基础。
    • The human DNA sequence can also help researchers tailor medications to individual genotypes . This is called personalized medicine, and it has led to an entirely new field called pharmacogenomics . Pharmacogenomics, also called pharmacogenetics, is the study of how our genes affect the way we respond to drugs . You can read more about pharmacogenomics in the Feature below.
      ::人类DNA序列也可以帮助研究人员根据个体基因型进行药物定制。这被称为个性化医学,并导致一个全新的领域,即药理基因学。药理基因学,也称为药理基因学,是研究我们的基因如何影响我们对药物的反应方式。你可以在下面的特征中更多地读到药理基因学。
    • The analysis of similarities between DNA sequences from different organisms is opening new avenues in the study of evolution. For example, analyses are expected to shed light on many questions about the similarities and differences between humans and our closest relatives, the nonhuman .
      ::分析不同生物的DNA序列之间的相似性为研究进化开辟了新的途径。 比如,分析有望揭示人类和我们最亲近的亲戚 — — 非人类 — — 之间相似性和差异的许多问题。

    Ethical, Legal, and Social Issues of the Human Genome Project
    ::人类基因组项目的伦理、法律和社会问题

    From its launch in 1990, the HGP proactively established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project. A major concern was the possible use of the knowledge generated by the project to discriminate against people. There were worries that  that employers and health insurance companies would refuse to hire or insure people based on their genetic makeup, for instance, if they had genes that increased their risk of getting certain diseases. In response, in 1996, the U.S. passed the Health Insurance Portability and Accountability Act (HIPAA). It protects against unauthorized, nonconsensual release of individually identifiable health information to any entity not actively engaged in providing healthcare to a patient. This was followed in 2008 by the Genetic Information Nondiscrimination Act (GINA), which specifically prohibits genetic discrimination by health insurance companies and workplaces.
    ::自1990年启动以来,HGP积极主动地设立并资助了一个单独委员会,监督与该项目相关的潜在道德、法律和社会问题,一个主要关切是,该项目产生的知识可能被用来歧视人,令人担心雇主和健康保险公司会拒绝雇用或根据基因构成为他人提供保险,例如,如果他们有基因增加其患某些疾病的风险,则会拒绝雇用或为其提供保险,美国于1996年通过了《健康保险可携带性和问责制法》,保护不未经授权、未经同意向不积极为病人提供保健的任何实体提供可识别的单独健康信息,2008年又通过了《遗传信息不歧视法》,该法具体禁止健康保险公司和工作场所的遗传歧视。

    Feature: Human Biology in the News
    ::特著:《新闻》中的人类生物学

    Not everyone responds to medications in the same way. A drug that works well for one person may not be effective  for  another. The dose of a drug that cures a disease in one individual may be inadequate for someone else. Some people may experience side effects from a given medication, whereas other people do not. This variation in responses to medications can be due to differences in our genes. That's where the field of pharmacogenetics comes in. News media have hailed it as the "new frontier in medicine." It certainly seems to hold promise for improving the treatment of patients with pharmaceutical drugs.
    ::并非每个人都以同样的方式对药物做出回应。 一种对一个人有效的药物可能不会对另一个人有效。 治疗一个人的疾病的药物剂量可能不足以满足另一个人。 有些人可能受到某种药物的副作用,而其他人则没有。 药物反应的这种差异可能是由于我们基因的差异造成的。 这就是药用遗传学领域出现的地方。 新闻媒体称它为“医学新前沿 ” 。 这显然预示着改善药物患者治疗的前景。

    Pharmacogenomics is based on a special kind of genetic testing. It looks for small genetic variations that influence a person's ability to activate and deactivate drugs. Results of the tests can help doctors choose the best drug and most effective dose for a given patient. Some of the greatest successes of pharmacogenomics have been in cancer treatment. Many of the drugs that treat cancer need to be activated by the patient's own . Inherited variations in enzymes may affect how quickly or efficiently the drugs are activated. For example, if a patient's enzymes break down a particular drug too slowly, then standard doses of the drug may not work very well for that patient. Drugs also must be deactivated to reduce their effects on healthy . If a patient's enzymes deactivate a drug too slowly, then the drug may remain at high levels and cause side effects.
    ::药用基因组学基于一种特殊的基因测试。 它会寻找影响一个人激活和停用药物能力的细小基因变异。 测试结果可以帮助医生为特定病人选择最好的药物和最有效的剂量。 药用基因组学的一些最成功是癌症治疗。 许多治疗癌症的药物需要由病人自己来激活。 酶的遗传变异可能会影响药物的激活速度或效率。 例如, 如果病人的酶分解速度过慢, 那么标准剂量的药物对病人可能效果不好。 药物也必须停止使用以减少其对健康的影响。 如果病人的酶分解速度过慢, 那么该药物可能保持高水平并产生副作用。

    One of the main benefits of pharmacogenomics is greater patient safety. Pharmacogenomic testing may help identify patients who are likely to experience adverse reactions to drugs, so that different, safer drugs can be prescribed. Another benefit of pharmacogenomics is eliminating the trial-and-error approach that is often used to find appropriate medications and doses for a given patient. This saves time and money, as well as improving patient outcomes.
    ::药用基因组学的主要好处之一是加强病人的安全性。 药用基因组学的测试可以帮助确定那些可能对药物产生不利反应的病人,从而可以开出不同的、更安全的药物。 药用基因组学的另一个好处是消除经常用来为特定病人找到适当药物和剂量的试验和紧张方法。 这节省了时间和金钱,也改善了病人的结果。

    Because pharmacogenomics is new, some insurance companies do not cover it, and it can be very expensive. Also, not all of the genetic tests are widely available at this point. In addition, there may be ethical and legal issues associated with the genetic testing, including concerns about privacy issues.
    ::由于制药基因组学是新事物,有些保险公司不承保,而且可能非常昂贵。 此外,目前并非所有基因测试都可广泛获得。 此外,遗传测试还可能存在伦理和法律问题,包括隐私问题。

    Summary
    ::摘要

    • The human genome refers to all of the DNA of the human species. It consists of more than 3.3 billion base pairs divided into 20,500 genes on 23 pairs of chromosomes.
      ::人类基因组是指人类的所有DNA,由33亿对基对组成,在23对染色体上分为20,500个基因和23对染色体。
    • The Human Genome Project (HGP) was a multi-billion dollar international research project that began in 1990. By 2003, it had sequenced all of the DNA base pairs in the human genome. It also mapped the location and determined the function of all the genes in the human genome.
      ::人类基因组项目(人基因组项目)是1990年开始的耗资数十亿美元的国际研究项目,到2003年,人类基因组中的所有DNA基对都进行了排序,还绘制了人类基因组中所有基因的位置,确定了基因组的功能。
    • In 2003, the HGP published the results of its sequence of DNA as a human reference genome. The entire DNA sequence is stored in databases that are available to anyone on the Internet.
      ::2003年,HGP公布了其DNA序列结果,作为人类参考基因组,整个DNA序列都储存在数据库中,供互联网上的任何人使用。
    • Sequencing of the human genome is helping researchers better understand cancer and genetic diseases. It is also helping them tailor medications to individual patients, which is the focus of the new field of pharmacogenomics. In addition, it is helping researchers better understand human evolution.
      ::人类基因组的分级有助于研究人员更好地了解癌症和遗传疾病,还帮助他们为个别病人量身定制药物,这是新药理学领域的重点,此外,还有助于研究人员更好地了解人类进化。
    • From its launch in 1990, the HGP established and funded a separate committee to oversee potential ethical, legal, and social issues associated with the project.
      ::自1990年启动以来,高级赠款方案设立并资助了一个单独的委员会,以监督与该项目有关的潜在道德、法律和社会问题。

    Review
    ::回顾

    1. Describe the human genome.
    ::1. 描述人类基因组。

    2. What is the Human Genome Project?
    ::2. 什么是人类基因组项目?

    3. Identify two main goals of the Human Genome Project.
    ::3. 确定人类基因组项目的两个主要目标。

    4. What is the reference genome of the Human Genome Project? What is it based on?
    ::4. 人类基因组项目的基准基因组是什么?基于什么?

    5. Explain how knowing the sequence of DNA bases in the human genome is beneficial for molecular medicine.
    ::5. 解释了解人类基因组中DNA基数的顺序如何有利于分子医学。

    6. What was one surprising finding of the Human Genome Project?
    ::6. 人类基因组项目有什么令人惊讶的发现?

    7. Why do you think scientists didn’t just sequence the DNA from a single person for the Human Genome Project? Along those lines, why do you think it is important to include samples from different ethnic groups and genders in genome sequencing efforts?
    ::7. 为什么你认为科学家们没有为人类基因组项目从一个人身上对DNA进行测序? 按照这些思路,你为什么认为在基因组测序工作中必须包括来自不同族裔群体和性别的样本?

    8. True or False:  The sequenced human genome does not include noncoding regions — it only includes actual genes.
    ::8. 真实或假:顺序排列的人类基因组不包括非编码区域——只包括实际基因。

    9. True or False:  Knowing the sequence of the human genome can give insight into human evolution.
    ::9. 真实或虚假:了解人类基因组的顺序可以使人们深入了解人类的演变。

    a. What is pharmacogenomics?
    ::a. 什么是药理工程学?

    b. If a patient were to have pharmacogenomics done to optimize their medication, what do you think the first step would be?
    ::b. 如果病人进行药理工程学研究以优化其药物治疗,你认为第一步是什么?

    c. List one advantage and one disadvantage of pharmacogenomics.
    ::c. 列出药理学的一个优势和一个劣势。

     

    10. There are approximately 20 thousand human ________ .
    ::10. 约有2万人。

    a. base pairs
    ::a. 基对对

    b. nucleotides
    ::b. 核糖化物

    c. alleles
    ::c. 球体

    d. genes
    ::d. 基因

    11. Explain how the sequencing of the human genome relates to ethical concerns about genetic discrimination.
    ::11. 解释人类基因组的测序如何与遗传歧视的伦理问题相关。

    Explore More
    ::探索更多

    For years, scientists have been faced with  the challenge of sequencing the human genome. Learn more about the human genome project here:
    ::多年来,科学家一直面临着人类基因组测序的挑战。

     

    Check out this video to explore the moral and ethical grey areas of genetic editing:
    ::探究基因编辑的道德和伦理灰色领域: