儿童孤独症与拷贝数变异的研究TheCopyNumberVariantsResearch.PDF

1186 现代生物医学进展 Progress in Modern Biomedicine Vol.15 NO.6 FEB.2015 doi: 10.13241/ki.pmb.20 15.06.047 儿童孤独症与拷贝数变异的研究 雷礼磊 葛陈捷 邬素萍 吴 铮 唐春玲 （哈尔滨医科大学第一临床医学院精神科 黑龙江哈尔滨150001 ） 摘要：儿童孤独症是一种复杂的神经发育性障碍，患儿常表现有认知、情感和行为等多方面的异常，主要临床表现为社会交往障 碍，言语交流障碍，重复刻板行为。孤独症多起病于 岁之前，男女发病比例约为4 :1，患儿常伴有明显的精神发育迟滞。近年来， 9.1 ‰ - 其发病率呈现逐年上升的趋势，必威体育精装版的流行病学调查显示孤独症在美国的患病率约为 。据公认的假说 常见疾病 常见变 ，在普通人群中将会变得很常见。由于该病起病早，难以进行早期识别，而 异 推测，孤独症的风险等位基因和其他复杂疾病一样 且尚无特效药或方法可以彻 治愈这种病症，因而给社会及患儿家庭带来了沉重的负担。目前其发病原因和机制尚不明确，但关 于儿童孤独症的双生子研究和家系研究都显示它是一个高度遗传性疾病，而且很多证据都表明孤独症是受多因素影响的遗传性 疾病，近年来关于孤独症和拷贝数变异(CNVS)研究的报道越来越多，本文将主要就儿童孤独症的拷贝数变异研究现状和必威体育精装版进 展进行论述。 ： (CNVS) 关键词 儿童孤独症；遗传学；拷贝数变异 R749.94 A 1673-6273(2015)06-1186-03 中图分类号： 文献标识码： 文章编号： The Copy Number Variants Research of Childhood Autism Autism is a complex neurodevelopment disorders by impairment in social interaction, verbal communication and repetitive/stereotypic behavior. The children often show a wide range of cognitive, emotional and behavioral abnormalities. Autism always begins before the age of three, the male to female ratio is about 4 :1, it often accompanied by significant mental retardation. In recent years, the incidence rate of childhood autism showed an increasing trend. The latest epidemiological survey of the prevalence of autism in the United States is about 9.1 ‰. The widely accepted Common Disease-Common Variant hypothesis predicts that the risk alleles in ASDs and other complex disorders will be common in the general population. Since the early onset of the disease, it is difficult for early identification, and there is no cure or method can completely cu