基因与脑发育障碍研究

 　　SAN FRANCISCO, Feb. 26 (Xinhua) -- Researchers have conducted a large, international, multi-institutional study to uncover new information about similarities and differences underlying¹ various neurodevelopmental disorders³ including autism, intellectual impairments, developmental delays, attention deficits⁴, tic disorders and language difficulties.

　　More than 11,700 affected⁵ individuals and nearly 2,800 control subjects underwent targeted DNA⁶ sequencing of 208 suspected disease-risk genes⁸, which were chosen based on previously⁹ published studies. By looking at greater numbers of cases and using a reliable yet inexpensive molecular¹⁰ inversion¹¹ probe, the project team wanted to measure the statistical¹² significance of individual, implicated¹³ genes.

　　Led by Holly¹⁴ A. F. Stessman, Bo Xiong and Bradley P. Coe, of the genome sciences laboratory of Evan Eichler at the University of Washington School of Medicine and the Howard Hughes Medical Institute and reported in Nature Genetics, samples were collected through the Autism Spectrum¹⁶/Intellectual Disability 15-center network spanning seven countries and four continents. An advantage of this collection, the researchers said, is the ability to check back on a large fraction of cases to try to relate genetic¹⁵ results to clinical findings.

　　New study to sort out risk genes for brain development disorders

　　In their study population, the researchers associated 91 genes with the risk of a neurodevelopmental disorder². These included 38 genes not previously suspected of playing a role. Based on some of the family studies, however, mutations even in two or more of the risk genes may not be necessary or sufficient to cause disease. Of the 91 genes, 25 were linked with forms of autism without intellectual disability. The researchers also described a gene⁷ network that appeared to be related to high-functioning autism. Individuals with this form of autism have average to above average intelligence, but may struggle in learning to talk, interact socially, or manage anxiety and sensory¹⁷ overload¹⁸.

　　While observing that some genes were more closely associated with autism and others with intellectual or developmental impairments, the researchers found that most of the genes implicated were mutated in both conditions. "Most of these genes are clearly risk factors for neurodevelopmental disorders in a broad sense," the researchers explained. "But analysis of both the genetic and subsequent patient follow-up data did single out some genes with a statistical bias¹⁹ towards autism spectrum disorder, rather than an intellectual disability or developmental delay."

　　This result reinforces the substantial overlap²⁰ among these conditions in their underlying genetics and observable characteristics. And additional findings suggest that less severe mutations may be behind autism that is not accompanied by intellectual disability. In addition to looking at the overall severity of each neurodevelopmental disorder present, the researchers summarized other features such as seizures²¹, head size, and congenital abnormalities.

　　The researchers did in fact observe patterns from combining clinical and genetic data. They partitioned those genes most strongly associated with autism, and those more related to developmental disabilities. Although the overall numbers were low, several autism risk genes appeared predominantly in males, including some detected exclusively in males who had autism without intellectual impairment.

　　By following up with patients, the researchers could start to assess the newly discovered mutations. Such clinical information is important in determining how the genes might function, and how their disruption might lead to specific traits or symptoms. "The scientists are continuing this project and are eager to work with interested families," Raphael Bernier, associate professor of psychiatry²² and behavioral sciences and clinical director of the Seattle Children's Autism Center and associate director of the UW Center on Human Development and Disability, was quoted as saying in a news release.

1 underlying   

adj.在下面的，含蓄的，潜在的

参考例句：

• The underlying theme of the novel is very serious.小说隐含的主题是十分严肃的。
• This word has its underlying meaning.这个单词有它潜在的含义。

2 disorder   

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。

3 disorders   

n.混乱( disorder的名词复数 )；凌乱；骚乱；（身心、机能）失调

参考例句：

• Reports of anorexia and other eating disorders are on the increase. 据报告，厌食症和其他饮食方面的功能紊乱发生率正在不断增长。 来自《简明英汉词典》
• The announcement led to violent civil disorders. 这项宣布引起剧烈的骚乱。 来自《简明英汉词典》

4 deficits   

n.不足额( deficit的名词复数 )；赤字；亏空；亏损

参考例句：

• The Ministry of Finance consistently overestimated its budget deficits. 财政部一贯高估预算赤字。 来自《简明英汉词典》
• Many of the world's farmers are also incurring economic deficits. 世界上许多农民还在遭受经济上的亏损。 来自辞典例句

5 affected   

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。

6 DNA   

(缩)deoxyribonucleic acid 脱氧核糖核酸

参考例句：

• DNA is stored in the nucleus of a cell.脱氧核糖核酸储存于细胞的细胞核里。
• Gene mutations are alterations in the DNA code.基因突变是指DNA密码的改变。

7 gene   

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。

8 genes   

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

9 previously   

adv.以前，先前（地）

参考例句：

• The bicycle tyre blew out at a previously damaged point.自行车胎在以前损坏过的地方又爆开了。
• Let me digress for a moment and explain what had happened previously.让我岔开一会儿，解释原先发生了什么。

10 molecular   

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。

11 inversion   

n.反向，倒转，倒置

参考例句：

• But sometimes there is an unusual weather condition called a temperature inversion.但有时会有一种被称作“温度逆增”的不平常的天气状态。
• And finally,we made a discussion on the problems in the cooperative inversion.最后，对联合反演中存在的问题进行了讨论。

12 statistical   

adj.统计的，统计学的

参考例句：

• He showed the price fluctuations in a statistical table.他用统计表显示价格的波动。
• They're making detailed statistical analysis.他们正在做具体的统计分析。

13 implicated   

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》

14 holly   

n.[植]冬青属灌木

参考例句：

• I recently acquired some wood from a holly tree.最近我从一棵冬青树上弄了些木料。
• People often decorate their houses with holly at Christmas.人们总是在圣诞节时用冬青来装饰房屋。

15 genetic   

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。

16 spectrum   

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。

17 sensory   

adj.知觉的，感觉的，知觉器官的

参考例句：

• Human powers of sensory discrimination are limited.人类感官分辨能力有限。
• The sensory system may undergo long-term adaptation in alien environments.感觉系统对陌生的环境可能经过长时期才能适应。

18 overload   

vt.使超载；n.超载

参考例句：

• Don't overload the boat or it will sink.别超载，否则船会沉。
• Large meals overload the digestive system.吃得太饱会加重消化系统的负担。

19 bias   

n.偏见，偏心，偏袒；vt.使有偏见

参考例句：

• They are accusing the teacher of political bias in his marking.他们在指控那名教师打分数有政治偏见。
• He had a bias toward the plan.他对这项计划有偏见。

20 overlap   

v.重叠，与…交叠；n.重叠

参考例句：

• The overlap between the jacket and the trousers is not good.夹克和裤子重叠的部分不好看。
• Tiles overlap each other.屋瓦相互叠盖。

21 seizures   

n.起获( seizure的名词复数 )；没收；充公；起获的赃物

参考例句：

• Seizures of illicit drugs have increased by 30% this year. 今年违禁药品的扣押增长了30%。 来自《简明英汉词典》
• Other causes of unconsciousness predisposing to aspiration lung abscess are convulsive seizures. 造成吸入性肺脓肿昏迷的其他原因，有惊厥发作。 来自辞典例句

22 psychiatry   

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。