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Reading Biology’s Book: Genetic Testing 生物图谱：基因检测

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课文讲解

繁體中文譯本

On April 14, 2003, the Human Genome Project published our part in the book of nature: the human deoxyribonucleic acid (DNA) sequence. Understanding the sequence is akin to reading a favorite novel translated into an unknown language: though we know what happens, we’re not sure what the words mean. Nevertheless, there is a very practical application to contemporary advances in genomics: genetic testing.

2003年4月14日人类基因工程计划公布了人类的生物图谱：脱氧核醣核酸（简称DNA）的排序。看这份排序，有点像是阅读一本我们心爱的小说，却被翻译成了另一种我们看不懂的语言：虽然懂得发生了什么事，却无法掌握住各个单字。虽然如此，基因学在当代的进展中有一项很实际的应用：就是基因检测。

At present, such testing can easily discern genetic information related to disease, enabling prospective parents to be screened for genes that pass on lethal disorders such as sickle-cell anemia. Most commonly, though, newborns are tested for absent or abnormal genes that could lead to illness. In the U.S. alone, four million babies are screened annually for genetic diseases, cancer predisposition, and paternity.

现在这种检测可以轻易地查出与疾病相关的基因，让准父母避免将导致如镰状红细胞贫血症等疾病的基因传给下一代。不过最普遍的还是为新生儿进行缺失基因筛检，找出可能致病的基因。在美国，每年就有四百万名婴儿作基因检测，检查疾病、癌症倾向和亲属血缘。

The medical applications of genetic testing stand in clear contradistinction to its social or legal applications. About 1 in 3 men requesting paternity testing discover they are not the biological father of the child in question. Likewise, uncovering genetic predisposition to disease can be an obstacle to obtaining medical insurance in the calculating world of American HMOs.

基因检测的医疗应用，与它在法律社会方面的应用有很明显不同的对比。约有三分之一亲属血缘鉴定案的男性受检者发现，他们不是该名婴儿的父亲。同样地，若一旦发现基因带有疾病倾向，对医疗成本锱铢必较的美国健保计划机构【注】，就会阻碍保险人获得良好的医疗照顾。

Indeed, the potential conflict of interest problems associated with genetic testing raise ethical issues that are not less complex than the human DNA sequence itself.

的确，基因检测带来了复杂利益和潜在冲突，它所导致的人伦问题，其复杂度绝对不亚于人类基因排序本身。

【注】：HMOs(Health Maintenance Organizations)美国健保计划机构提供的医疗健康照护计划内容，是根据每月所收的固定费用而订。

Vocabulary

单词发音

sequence [ˋsikwəns] n.【数】序列

akin [əˋkɪn] adj. 同类的；近似的[(+to)]: similar to

genomics [dʒəˈnomɪks] n. 基因组学

discern [dɪˋzɝn] v. 分辨，识别；看出

prospective [prəˋspɛktɪv] adj. 预期的﹐ 未来的﹐ 可能的

screen [skrin] v. 检查，筛查(以确定是否患病)

predisposition [͵pridɪspəˋzɪʃən] n.〔以某种方式行事的〕倾向; 易患某疾病的倾向

paternity [pəˋtɝnətɪ] n.【法律】父亲的身分﹐ 生父

stand [stænd] v. 处于某种状态

contradistinction [͵kɑntrədɪˋstɪŋkʃən] n. 对比；对比的区别

obstacle [ˋɑbstək!] n. 障碍﹐阻碍﹐妨碍

calculating [ˋkælkjə͵letɪŋ] adj. 有算计的﹐工于心计的﹐用尽心机（作损人利己之事）的

ethical [ˋɛθɪk!] adj. 伦理的，道德的

Sentence of the Day

Research is progressing like nobody's business.

研究工作飞快的进展中。

like nobody's business【口】非常 very well; very much

课文讲解

Pre-med students Francis and James are studying together:  医预科学生法兰西丝和詹姆士在期中考前一块儿读书：

J: I was amazed to learn that the number of genes which make up homo sapiens is only about 30,000. Even if our midterm only tests a few of them, it’s going to be killer.

知道人类的基因数只有大约三万的时候，我很惊讶。我们的期中考即使只考其中一小部份，也将是够难的。

F: Not if you studied! Actually, scientists were expecting to find many more genes. The Human Genome Project is inspiring, particular the new avenues in genetic testing it’s opened up.

如果准备妥当就不会觉得难！事实上科学家期待会发现更多的基因，人类的基因工程计划很富有启发性，尤其在基因检测方面开了一条康庄大道。

J: Right, this stuff about predictive gene testing is cool. It would be good to know if you’re going to get sick with something.

没错，基因检测的预测性尤其酷，我们能事先知道自己是不是会生什么病真好。

F: Remember, you can’t know anything for certain because these tests only suggest the probability of getting sick. Scientists can already use this “stuff” to assess predisposition for breast or colon cancer, but they’re hoping to predict many other diseases.

要记得，没有什么事情是绝对百分之百的，因为这些检测只是找出得病的可能性而已。科学家已经能用这些材料评估乳癌与结肠癌的倾向，不过他们希望能预知更多其他的疾病。

J: Don’t get snarky! I wanted to add that gene therapy is the real radical outcome of what starts with genetic testing.

别动气！我想说的是基因疗法是当初开始做基因检测研究的最根本结果。

F: So, you do study sometimes. True, once we find a genetic problem, we can sometimes supply the body with the missing gene. Scientists are currently targeting diseases like Alzheimer’s for such treatment.

所以啊，你还真读了不少书呢。是真的，如果我们查出是基因有问题，我们可以补足身体里那个缺失的基因。科学家目前正锁定老年痴呆症这类疾病，做为治疗目标。

J: Doctors need more than scientific knowledge, you know like a good “bedside manner.”

医生需要具备的不仅科学知识而已，妳知道…像是良好的「床边服务态度」这些。

F: We can practice that after the midterm!

那个等我们期中考之后再练习！

－by Iain Ferguson

Vocabulary

单词发音

pre-med premedical 医学院预科的

homo sapiens 人类；现代人

midterm [ˋmɪd͵tɝm] n.【美】〔大学的〕期中考试

killer [ˋkɪlɚ] n. 致命之物

avenue [ˋævə͵nju] n. 途径，方法

colon [ˋkolən] n.【解】结肠

snarky [ˈsnɑrkɪ] adj. 恶声恶气的

radical [ˋrædɪk!] adj. 根本的，基本的

A good bedside manner  A good bedside manner is typically one that reassures and comforts the patient while remaining honest about a diagnosis.

bedside manner 医疗服务态度; 医生对病人的态度

Sentence of the Day

They're hitting the books.

他们正在用功读书。

hit the books  用功