据7月10日的《科学》（Science）杂志报道说，研究人员对整个人类基因组的多个不同的可能含有自闭症基因的“邮政区码”进行了导向目标追踪。研究人员发现的每一个基因突变就它们本身来说都是罕见的，所以这些结果并不直接提供人们一个对该疾病进行筛检的方法，但这是人们第一次用遗传学的技术研究该疾病。它可能会最终帮助研究人员确认自闭症的风险因子。目前还没有测试自闭症的实验室方法，该疾病实际上是多种疾病的集和，其中包括社交互动及交流能力的损害以及重复性行为及狭窄的兴趣面。自闭症似有家族倾向，尽管它好像同时也有某种环境的成分。研究人员已经确认了某些与自闭症有关联的基因，但可能还有更多的相关基因。
Eric M. Morrow及其同事应用一种叫做“纯合子定位”的方法对一组家庭进行了研究，这些家庭来自阿拉伯中东地区、土耳其和巴基斯坦，而这些家庭的孩子患有自闭症，且患儿的家长互为表亲。如果孩子的家长有共同的祖先，会使他们的孩子中隐性基因突变的出现机会增加。文章的作者确认了在这些家族中所共有的几个可能含有使自闭症罹患机会增加的基因组序列。这些基因中有几个是在出生后由大脑的神经元活动所调节的，因此文章的作者猜测，这一调节过程的缺陷可能是导致疾病的部分机制，至少在某些个体中是这样， 即由该致病机制引起自闭症患者的认知缺陷。一则相关的Perspective对这些发现进行了讨论。（生物谷Bioon.com）
生物谷推荐原始出处：
Science，Vol. 321. no. 5886, pp. 218 - 223，Eric M. Morrow，Christopher A. Walsh
Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry
Eric M. Morrow,1,2,3,4,5* Seung-Yun Yoo,1,2,4,5* Steven W. Flavell,5,6 Tae-Kyung Kim,5,6 Yingxi Lin,5,6 Robert Sean Hill,1,2,4,5 Nahit M. Mukaddes,7 Soher Balkhy,8 Generoso Gascon,8,9 Asif Hashmi,10 Samira Al-Saad,11 Janice Ware,5,12 Robert M. Joseph,5,13 Rachel Greenblatt,1,2 Danielle Gleason,1,2 Julia A. Ertelt,1,2 Kira A. Apse,1,2,5 Adria Bodell,1,2 Jennifer N. Partlow,1,2 Brenda Barry,1,2 Hui Yao,1 Kyriacos Markianos,1 Russell J. Ferland,14 Michael E. Greenberg,5,6 Christopher A. Walsh1,2,4,5
To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning. A subset of genes, including NHE9 (Na+/H+ exchanger 9), showed additional potential mutations in patients with unrelated parents. Our findings highlight the utility of "homozygosity mapping" in heterogeneous disorders like autism but also suggest that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations.
1 Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA.
2 Department of Neurology and Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.
3 Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA.
4 Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
5 Autism Consortium, 10 Shattuck Street, Boston, MA 02115, USA.
6 F. M. Kirby Neurobiology Center, Children's Hospital Boston, and Departments of Neurology and Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
7 Department of Child Psychiatry, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
8 Department of Neurosciences and Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Kingdom of Saudi Arabia.
9 Clinical Neurosciences and Pediatrics, Brown University School of Medicine, Providence, Rhode Island 02912, USA.
10 Department of Neurology, Combined Military Hospital, Lahore, Pakistan.
11 Kuwait Center for Autism, Kuwait City, Kuwait.
12 Developmental Medicine Center, Children's Hospital Boston, Boston, MA 02115, USA.
13 Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, MA 02118, USA.
14 Department of Biology, Rensselaer Polytechnic Institute, Troy, NY 12180–3590, USA.
* These authors contributed equally to this work.
