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發現自閉癥的易感基因

www.www471818.com  2009-6-11 9:49:42  來源:科學網

幾個方面的證據都表明,“泛自閉癥障礙癥候群”(ASDs)、神經發育和神經精神類疾病都與遺傳有關,這些疾病的特征是語言溝通和社會互動能力受損。病癥在臨床和遺傳上的復雜性使得研究人員難以識別易感因子,但本期Nature上發表的兩項相關聯的研究,為這類疾病與遺傳有關的觀點提供了可靠證據。第一項是整個基因組范圍內的關聯研究,識別出了6個與自閉癥有很強相關性的單核苷酸多態性。這些變種分布在兩個編碼神經細胞黏附分子的基因之間,說明它們可能在ASD發病機理中有所涉及。第二項研究利用版本數變化篩選方法來識別ASDs患兒兩個主要基因通道中的基因變異。這些變異在泛素通道中,該通道以前被發現與神經類疾病有關;它們也在為神經細胞粘附分子編碼的基因中。
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