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Unique Mutations Linked To Schizophrenia

机译:与精神分裂症有关的独特突变

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摘要

Investigating the biological origins of schizophrenia has turned up few solid genetic clues. But a study published in Science in April pointed to one new factor: Patients with schizophrenia frequently have large chunks of DNA added to or missing from their genomes. Researchers checked the genomes of 150 patients with schizophrenia and those of 268 healthy people, looking for large duplications and deletions of genetic material that disrupted the function of a gene. About 15 percent of the schizophrenics had such mutations, compared with only 5 percent of the people without the disease. In people whose onset of schizophrenia occurred before age 19, the proportion was 20 percent. Surprisingly, each patient's mutation was unique, utterly unlike that of any other patient in the study. "Each one occurred in a different spot in the genome," says University of Washington child psychiatrist Jon McClellan, a coauthor of the paper. "It was counter to most current assumptions."
机译:调查精神分裂症的生物学起源已经发现了很少的可靠遗传线索。但是,4月发表在《科学》杂志上的一项研究指出了一个新因素:精神分裂症患者的基因组中经常添加或缺失大量DNA。研究人员检查了150位精神分裂症患者的基因组和268位健康人群的基因组,寻找破坏基因功能的遗传物质的大量重复和缺失。约有15%的精神分裂症患者具有这种突变,而没有这种疾病的人只有5%。在精神分裂症发作于19岁之前的人群中,这一比例为20%。令人惊讶的是,每个患者的突变都是独特的,完全不同于研究中的其他任何患者。该论文的合著者,华盛顿大学儿童精神病学家乔恩·麦克莱伦(Jon McClellan)说:“每一个都发生在基因组的不同部位。” “这与大多数当前的假设背道而驰。”

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