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(单词翻译)
Genetic2 Test Pinpoints3 Cause of Patient Illness
About a decade ago, scientists decoded4 the human genome, creating a gene1-by-gene map of our DNA5. In the decade since, genetic research has accelerated, but mostly it's stayed in the laboratory. Now, genetic science is taking its first steps into medical practice.
The Beery twins were born in 1996, and were diagnosed with cerebral6 palsy two years later. But as the children got older, their symptoms suggested a different diagnosis7, a lack of the neurotransmitter dopamine. Around age six, the twins started taking a drug called L-dopa, which dramatically lessened8 their muscle spasms9 and other symptoms.
Fast forward a decade or so, and new symptoms appeared. To see what other factor might be at work, a team at the Baylor College of Medicine in Texas analyzed10 DNA samples from each of the twins, looking for a mutation11 that might be responsible.
Genetic tests then available didn't find anything unusual, however researcher Matthew Bainbridge says sequencing the entire genome of each of the twins later identified mutated copies of a gene called SPR (sepiapterin reductase).
"But mutations in SPR mean that, not only do you not make dopamine in the brain, you also don't make serotonin. And so these kids were getting this L-dopa treatment, which helped them with their lack of dopamine, but they weren't getting anything for their serotonin," he says.
A serotonin supplement was added to their medications, and within a month their mother says there were noticeable improvements in Alexis Beery's breathing and in her twin brother Noah's school work.
It seems almost every week there's a story about scientists who have identified a gene linked to some disease or another. Those discoveries are important, but Bainbridge says the Beery case represents something else.
"The difference is that we can actually do something, because we found these mutations and we knew that they were causing the disease. We could actually change the therapy the children got," Bainbridge says.
Whole-genome sequencing is still an expensive, specialized12 activity. But the cost is coming down, and Bainbridge says this individualized approach to diagnosis and treatment may move out of the research lab and into the doctor's office, at least for some conditions, in as little as two to three years.
"I think eventually it will be routine. I can imagine a future - and not too distantly, in five to ten years - where children will be born and their whole genome will be sequenced immediately."
Bainbridge and his colleagues describe their work in the journal Science Translational Medicine.
1 gene | |
n.遗传因子,基因 | |
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2 genetic | |
adj.遗传的,遗传学的 | |
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3 pinpoints | |
准确地找出或描述( pinpoint的第三人称单数 ); 为…准确定位 | |
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4 decoded | |
v.译(码),解(码)( decode的过去式和过去分词 );分析及译解电子信号 | |
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5 DNA | |
(缩)deoxyribonucleic acid 脱氧核糖核酸 | |
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6 cerebral | |
adj.脑的,大脑的;有智力的,理智型的 | |
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7 diagnosis | |
n.诊断,诊断结果,调查分析,判断 | |
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8 lessened | |
减少的,减弱的 | |
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9 spasms | |
n.痉挛( spasm的名词复数 );抽搐;(能量、行为等的)突发;发作 | |
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10 analyzed | |
v.分析( analyze的过去式和过去分词 );分解;解释;对…进行心理分析 | |
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11 mutation | |
n.变化,变异,转变 | |
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12 specialized | |
adj.专门的,专业化的 | |
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