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Approaches to gene mapping in complex disorders and their application in child psychiatry and psychology

机译:复杂疾病中的基因定位方法及其在儿童精神病学和心理学中的应用

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Background Twin studies demonstrate the importance of genes and environment in the aetiology of childhood psychiatric and neurodevelopmental disorders. Advances in molecular genetics enable the identification of genes involved in complex disorders and enable the study of molecular mechanisms and genea€”environment interactions. Aims To review the role of molecular genetics studies in childhood behavioural and developmental traits. Method Molecular approaches to complex disorders are reviewed, with examples from autism, reading disability and attention-deficit hyperactivity disorder (ADHD). Results The most robust finding in ADHD is the association of a variable number tandem repeat polymorphism in exon 3 of the DRD4 gene. Other replicated associations with ADHD are outlined in the text. In autism, there is a replicated linkage finding on chromosome 7. Linkage studies in reading disability have confirmed a locus on chromosome 6 and strongly suggest one on chromosome 15. Conclusions In the next 5-10 years susceptibility genes for these disorders will be established. Describing their relationship to biological and behavioural function will be a far greater challenge.
机译:背景孪生研究证明了基因和环境在儿童精神病和神经发育障碍的病因中的重要性。分子遗传学的进展使人们能够鉴定出与复杂疾病有关的基因,并能够研究分子机制和家系与环境的相互作用。目的回顾分子遗传学研究在儿童行为和发育特征中的作用。方法综述了复杂疾病的分子治疗方法,并列举了自闭症,阅读障碍和注意力缺陷多动障碍(ADHD)等实例。结果ADHD中最可靠的发现是DRD4基因外显子3中可变数目的串联重复多态性的关联。文本中概述了与ADHD的其他复制关联。在自闭症中,在7号染色体上有重复的连锁发现。阅读障碍的连锁研究已证实6号染色体上的一个基因座,并强烈建议在15号染色体上一个基因座。结论在接下来的5-10年内,将建立这些疾病的易感基因。描述它们与生物学和行为功能的关系将是一个更大的挑战。

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