| 雷礼磊 葛陈捷 邬素萍△ 吴 铮 唐春玲.儿童孤独症与拷贝数变异的研究[J].,2015,15(6):1186-1188 |
| 儿童孤独症与拷贝数变异的研究 |
| The Copy Number Variants Research of Childhood Autism |
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| DOI： |
| 中文关键词: 儿童孤独症 遗传学 拷贝 数变异(CNVS) |
| 英文关键词: Autism Genetic Copy number variants (CNVs) |
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| 中文摘要: |
| 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 起病于三岁之前， 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，
其发病率呈现逐年上升的趋势，最新的流行病学调查显示孤独症在美国 的患病率约为 9.1 ‰。 据公认的假说 " 常见疾病 - 常见变
异 " 推测， 孤独症的风险等位基因和其他复杂疾病一样，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
且尚无特效药或方法可以彻底治愈这种病症，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 数变异研究现状和最新进
展进行论述。 |
| 英文摘要: |
| 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 ASD's 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 cure this disease, which has brought a heavy burden to the society
and families of these children. Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD, and much
evidence suggests that autism is multi-factorial with a strong genetic basis, but the underlying mechanisms are far from clear. Recently
there are more and more reports on autism and copy number variations (CNVs). The article will discuss the current situation and recent
progress of copy number variations of childhood autism. |
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