Study reveals Chinese Autism Gene, genetic mutations are found-IT information

A large genetic study of Chinese found genetic mutations associated with autism spectrum disorder, results published on November 9 in the nature-newsletter. This research is a step towards global understanding of autism spectrum disorders.

Central South University, Changsha, Hunan, China's Xia Kun, and United States the Evan Eichler of the University of Washington School of medicine and colleagues analyzed more than 1000 people with autism spectrum disorders 189 genes associated with autism risk, these genes are found in other groups of patients.

Researchers looked for mutations that occur only in the affected individual, rather than inherited mutations from their parents. About 4% of the patients with the mutation, and these occur only in 29 gene, well above chance expectations. In addition, some genes in patients with two or more repeats, making further candidate genes. Mutant frequency is similar to European populations. The researchers also found that sometimes appeared with autism spectrum disorders and other health problems (such as heart disease) with similar probability, and is usually associated with the same genes.

Previous studies have shown that repeated random mutations are important risk factors for autism spectrum disorders, but these genetic studies conducted primarily in the European population. Carried by the new study provided to the Chinese views of autism spectrum disorder risk mutations.

研究揭示中国人自闭症基因，相关遗传突变被找到 - IT资讯

一项大型中国人遗传研究找到了与自闭症谱系障碍相关的遗传突变，相关成果11月9日发表于《自然—通讯》。这项研究是迈向全球理解自闭症谱系障碍的一步。

中国湖南长沙中南大学的夏昆、美国华盛顿大学医学院的Evan Eichler及其同事分析了超过1000名拥有自闭症谱系障碍的中国人的与自闭症风险相关的189个基因，这些基因是在其他族群的患者中发现的。

研究人员特别寻找了仅在受影响的个体中发生的突变，而不是从父母那里遗传的突变。约4%的患者具有这样的突变，并且这些仅发生在29个基因中，远远高于随机预期。此外，一些基因在两个或更多患者中重复出现，使其进一步成为候选研究基因。突变的频率与欧洲人群相似。研究人员还发现，有时与自闭症谱系障碍一起出现的其他健康问题（例如心脏疾病）以相似的几率发生，并且通常与相同的基因相关。

以前的研究表明，重复出现的偶发突变是自闭症谱系障碍的重要风险因素，但这些遗传研究主要在欧洲人群中进行。这项新研究提供了对中国人携带的自闭症谱系障碍风险突变的见解。