據(jù)7月10日的《科學(xué)》（Science）雜志報道說,，研究人員對整個人類基因組的多個不同的可能含有自閉癥基因的“郵政區(qū)碼”進(jìn)行了導(dǎo)向目標(biāo)追蹤,。研究人員發(fā)現(xiàn)的每一個基因突變就它們本身來說都是罕見的，所以這些結(jié)果并不直接提供人們一個對該疾病進(jìn)行篩檢的方法,，但這是人們第一次用遺傳學(xué)的技術(shù)研究該疾病,。它可能會最終幫助研究人員確認(rèn)自閉癥的風(fēng)險因子。目前還沒有測試自閉癥的實驗室方法,，該疾病實際上是多種疾病的集和,，其中包括社交互動及交流能力的損害以及重復(fù)性行為及狹窄的興趣面。自閉癥似有家族傾向,，盡管它好像同時也有某種環(huán)境的成分,。研究人員已經(jīng)確認(rèn)了某些與自閉癥有關(guān)聯(lián)的基因,，但可能還有更多的相關(guān)基因。
Eric M. Morrow及其同事應(yīng)用一種叫做“純合子定位”的方法對一組家庭進(jìn)行了研究,，這些家庭來自阿拉伯中東地區(qū),、土耳其和巴基斯坦，而這些家庭的孩子患有自閉癥,，且患兒的家長互為表親,。如果孩子的家長有共同的祖先，會使他們的孩子中隱性基因突變的出現(xiàn)機(jī)會增加,。文章的作者確認(rèn)了在這些家族中所共有的幾個可能含有使自閉癥罹患機(jī)會增加的基因組序列,。這些基因中有幾個是在出生后由大腦的神經(jīng)元活動所調(diào)節(jié)的，因此文章的作者猜測,，這一調(diào)節(jié)過程的缺陷可能是導(dǎo)致疾病的部分機(jī)制,，至少在某些個體中是這樣， 即由該致病機(jī)制引起自閉癥患者的認(rèn)知缺陷,。一則相關(guān)的Perspective對這些發(fā)現(xiàn)進(jìn)行了討論,。（生物谷Bioon.com）
生物谷推薦原始出處：
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.
