基因检测可预测自闭症

时间：2012-09-13 06:36:48

（单词翻译:单击）

A team of Australian researchers, led by University of Melbourne has developed a genetic2 test that is able to predict the risk of developing autism spectrum3 disorder4 (ASD). Lead researcher Professor Stan Skafidas, Director of the Centre for Neural5 Engineering at the University of Melbourne said the test could be used to assess the risk for developing the disorder. "This test could assist in the early detection of the condition in babies and children and help in the early management of those who become diagnosed," he said. "It would be particularly relevant for families who have a history of autism or related conditions such as Asperger's syndrome," he said.
 
Autism affects around one in 150 births and is characterized by abnormal social interaction, impaired6 communication and repetitive（重复的） behaviours. The test correctly predicted ASD with more than 70 per cent accuracy in people of central European descent. Ongoing7 validation8 tests are continuing including the development of accurate testing for other ethnic9 groups.
 
Clinical neuropsychologist, Dr Renee Testa from the University of Melbourne and Monash University, said the test would allow clinicians to provide early interventions10 that may reduce behavioural and cognitive11 difficulties that children and adults with ASD experience. "Early identification of risk means we can provide interventions to improve overall functioning for those affected12, including families," she said.
 
A genetic cause has been long sought with many genes13 implicated14 in the condition, but no single gene1 has been adequate（充足的，适当的） for determining risk. Using US data from 3,346 individuals with ASD and 4,165 of their relatives from Autism Genetic Resource Exchange (AGRE) and Simons Foundation Autism Research Initiative (SFARI), the researchers identified 237 genetic markers (SNPs) in 146 genes and related cellular15 pathways that either contribute to or protect an individual from developing ASD.
 
Senior author Professor Christos Pantelis of the Melbourne Neuropsychiatry Centre at the University of Melbourne and Melbourne Health said the discovery of the combination of contributing and protective gene markers and their interaction had helped to develop a very promising17 predictive ASD test.
 
The test is based on measuring both genetic markers of risk and protection for ASD. The risk markers increase the score on the genetic test, while the protective markers decrease the score. The higher the overall score, the higher the individual risk.
 
"This has been a multidisciplinary team effort with expertise18 across fields providing new ways of investigating this complex condition," Professor Pantelis said.
 
The study was undertaken in collaboration19 with Professor Ian Everall, Cato Chair in Psychiatry16 and Dr Gursharan Chana from the University of Melbourne and Melbourne Health, and Dr Daniela Zantomio from Austin Health.
 
The next step is to further assess the accuracy of the test by monitoring children who are not yet diagnosed over an extended study. The study has been published today in the journal Molecular20 Psychiatry.

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1 gene WgKxx     
n.遗传因子，基因
参考例句：
  • A single gene may have many effects.单一基因可能具有很多种效应。
  • The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。
2 genetic PgIxp     
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。
3 spectrum Trhy6     
n.谱，光谱，频谱；范围，幅度，系列
参考例句：
  • This is a kind of atomic spectrum.这是一种原子光谱。
  • We have known much of the constitution of the solar spectrum.关于太阳光谱的构成，我们已了解不少。
4 disorder Et1x4     
n.紊乱，混乱；骚动，骚乱；疾病，失调
参考例句：
  • When returning back,he discovered the room to be in disorder.回家后，他发现屋子里乱七八糟。
  • It contained a vast number of letters in great disorder.里面七零八落地装着许多信件。
5 neural DnXzFt     
adj.神经的，神经系统的
参考例句：
  • The neural network can preferably solve the non- linear problem.利用神经网络建模可以较好地解决非线性问题。
  • The information transmission in neural system depends on neurotransmitters.信息传递的神经途径有赖于神经递质。
6 impaired sqtzdr     
adj.受损的；出毛病的；有（身体或智力）缺陷的v.损害，削弱( impair的过去式和过去分词 )
参考例句：
  • Much reading has impaired his vision. 大量读书损害了他的视力。 来自《现代汉英综合大词典》
  • His hearing is somewhat impaired. 他的听觉已受到一定程度的损害。 来自《现代汉英综合大词典》
7 ongoing 6RvzT     
adj.进行中的，前进的
参考例句：
  • The problem is ongoing.这个问题尚未解决。
  • The issues raised in the report relate directly to Age Concern's ongoing work in this area.报告中提出的问题与“关心老人”组织在这方面正在做的工作有直接的关系。
8 validation a617908b172c473cb8e8cda059e55bf0     
n.确认
参考例句：
  • If the countdown timer ever hits zero, do your validation processing. 处理这种情况的方法是在输入的同时使用递减计时器，每次击键重新计时。如果递减计时器变为零，就开始验证。 来自About Face 3交互设计精髓
  • Although the validation control is a very widespread idiom, most such controls can be improved. 虽然确认控件是非常广泛的习惯用法，但还有很多有待改进的地方。 来自About Face 3交互设计精髓
9 ethnic jiAz3     
adj.人种的，种族的，异教徒的
参考例句：
  • This music would sound more ethnic if you played it in steel drums.如果你用钢鼓演奏，这首乐曲将更具民族特色。
  • The plan is likely only to aggravate ethnic frictions.这一方案很有可能只会加剧种族冲突。
10 interventions b4e9b73905db5b0213891229ce84fdd3     
n.介入，干涉，干预( intervention的名词复数 )
参考例句：
  • Economic analysis of government interventions deserves detailed discussion. 政府对经济的干预应该给予充分的论述。 来自辞典例句
  • The judge's frequent interventions made a mockery of justice. 法官的屡屡干预是对正义的践踏。 来自互联网
11 cognitive Uqwz0     
adj.认知的，认识的，有感知的
参考例句：
  • As children grow older,their cognitive processes become sharper.孩子们越长越大，他们的认知过程变得更为敏锐。
  • The cognitive psychologist is like the tinker who wants to know how a clock works.认知心理学者倒很像一个需要通晓钟表如何运转的钟表修理匠。
12 affected TzUzg0     
adj.不自然的，假装的
参考例句：
  • She showed an affected interest in our subject.她假装对我们的课题感到兴趣。
  • His manners are affected.他的态度不自然。
13 genes 01914f8eac35d7e14afa065217edd8c0     
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
14 implicated 8443a53107b44913ed0a3f12cadfa423     
adj.密切关联的；牵涉其中的
参考例句：
  • These groups are very strongly implicated in the violence. 这些组织与这起暴力事件有着极大的关联。 来自《简明英汉词典》
  • Having the stolen goods in his possession implicated him in the robbery. 因藏有赃物使他涉有偷盗的嫌疑。 来自《现代汉英综合大词典》
15 cellular aU1yo     
adj.移动的；细胞的，由细胞组成的
参考例句：
  • She has a cellular telephone in her car.她的汽车里有一部无线通讯电话机。
  • Many people use cellular materials as sensitive elements in hygrometers.很多人用蜂窝状的材料作为测量温度的传感元件。
16 psychiatry g0Jze     
n.精神病学，精神病疗法
参考例句：
  • The study appeared in the Amercian science Journal of Psychiatry.这个研究发表在美国精神病学的杂志上。
  • A physician is someone who specializes in psychiatry.精神病专家是专门从事精神病治疗的人。
17 promising BkQzsk     
adj.有希望的，有前途的
参考例句：
  • The results of the experiments are very promising.实验的结果充满了希望。
  • We're trying to bring along one or two promising young swimmers.我们正设法培养出一两名有前途的年轻游泳选手。
18 expertise fmTx0     
n.专门知识(或技能等)，专长
参考例句：
  • We were amazed at his expertise on the ski slopes.他斜坡滑雪的技能使我们赞叹不已。
  • You really have the technical expertise in a new breakthrough.让你真正在专业技术上有一个全新的突破。
19 collaboration bW7yD     
n.合作，协作；勾结
参考例句：
  • The two companies are working in close collaboration each other.这两家公司密切合作。
  • He was shot for collaboration with the enemy.他因通敌而被枪毙了。
20 molecular mE9xh     
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。

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