国际最大自闭症基因研究(AGP)计划问世

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国际最大自闭症基因研究(AGP)计划问世

美国耶鲁大学的自闭症专家与来自19个国家的科学家合作，确定了与自闭症有关的一个基因和一个染色体区。此研究结果于今年3月发表于著名的“自然基因学” 杂志，成果源于目前国际最大的自闭症基因研究 (AGP) 计划。来之50多个研究机构的120多名科学家参与了这项研究。AGP计划开始于2002年，目的是联合分享各国拥有的样本，资料和技术，以助早日发现自闭症基因。

此研究计划受到“自闭症代言人” 组织和美国卫生部的资助。“自闭症代言人” 是一个热心于集资和呼吁社会重视自闭症的非赢利机构。美国卫生部对AGP计划第一阶段的研究提供了最初资助。

科学家们采用了“基因芯片” 技术来研究来自1200多个自闭症家庭的患儿的基因相似性。他们还研究了DNA拷贝数量的差异，科学家们相信亚微观的基因物质的插入或缺失可能于自闭症有关。研究的主要发现是Neurexin 1，--一个与神经传导介质谷氨酰胺有关的基因组的一部份，此基因以前即被认为与自闭症有关。他们还发现11号染色体上的一个基因与自闭症有关，但目前此基因尚未被精确定位。

科学家们推测可能有5-6个主要基因以及其他30多个次要基因与自闭症有关。如果一个孩子身上有较多的致病基因，患自闭症的机会将增高，疾病的程度将加重。

自闭症是一个复杂的脑部疾病，患儿交流能力和社教能力受到抑制，并伴有极端的行为异常。目前在美国，自闭症的发病率是每150个儿童中有一个自闭症患儿，男孩的发病率是女孩的4倍。在过去的10年中，自闭症的患儿增加了10倍。

下一步，AGP计划的第二阶段将展开，以继续发现与自闭症有关的基因。第二阶段的研究为期3年，将耗资1450多万美元。资金主要源于美国，英国，爱尔兰和加拿大。

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自闭症患者人数的急剧增加，已经形成巨大压力，促使西方社会各界关注自闭症问题。AGP计划的问世，投下的大量财力和人力，都充份表明这一点。美国的各大媒体现在都在频繁报道自闭症的研究和情形。前二天，美国CNN的著名主持LARRY KING还召集一大帮家庭有自闭症患者的社会名流和“自闭症代言人”机构的负责人在电视上大谈自闭症。今天可以说，社会主流，医学界主流已经开始真正重视自闭症。

显然，自闭症的治疗是滞后的。因为病因都尚不清楚，治疗上突破难免盲目。生物疗法尽管取得一些成果，但仍然缺乏具备对照，双盲，大样本的临床试验结果来证明。美国是一个医疗官司满天飞的国家，而且索赔都是天文数字。在此情况下，美国医学界主流保持稳重，不敢轻易支持任何不成熟的医疗方案，其苦衷也可以理解。

但无疑，航船已经起航，希望就在前方。

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Autism gene identified by researchers at Yale working with a global research consortium

Yale School of Medicine autism experts Fred Volkmar, M.D. and Ami Klin are part of a global research consortium from 19 countries to identify a gene and a region of a chromosome that may lead to autism in children.
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The findings are published online today in Nature Genetics and also will be published in the journal’s March print edition. They are based on the largest-ever autism genome scan. Over 120 scientists from over 50 institutions who formed the Autism Genome Project (AGP) performed the research. The AGP began in 2002 when researchers from around the world decided to collaborate and share their samples, data and expertise to aid in identifying autism susceptibility genes.


Funded by Autism Speaks, a national non-profit dedicated to increasing awareness of autism and raising money to research the disorder, and the National Institutes of Health, these are the preliminary findings from the AGP’s first phase.

The consortium used "gene chip" technology to look for genetic similarities in autistic individuals culled from almost 1,200 families. They also scanned the DNA to search for copy number variations, which are submicroscopic insertions and deletions of genetic material that scientists believe may be linked to autism and other diseases. The researchers found neurexin 1, part of a family of genes that plays a role with the neurotransmitter glutamate, which has been previously linked to autism. They also found a gene on chromosome 11 that may be linked to autism susceptibility. That gene has not yet been pinpointed.

Researchers speculate that there may be five or six major genes and as many as 30 other genes involved in autism. If a child has more of these genes, there is a higher chance of being born with autism or a more severe form of the disease.

Autism is a complex brain disorder that inhibits a person’s ability to communicate and develop social relationships, and is often accompanied by extreme behavioral challenges. Autism Spectrum Disorders are diagnosed in one in 150 children in the United States, affecting four times as many boys as girls. The diagnosis of autism has increased tenfold in the last decade.

Phase Two of the Autism Genome Project was also announced to continue the effort to discover the genes that cause the disorder. This second phase represents a $14.5 million, three-year investment by Autism Speaks, the British Medical Research Council, the Health Research Board of Ireland, Genome Canada and its partners, Canadian Institutes for Health Research, Southwest Autism Research and Resource Center, and the Hilibrand Foundation