Investigation of the genetic causes of Specific Language Impairment (SLI) in an isolated Chilean population

许多孩子在学习使用或理解语言方面有问题，这可能有很多不同的原因。我们研究一种特殊类型的语言障碍，称为特定语言障碍（或SLI）。SLI被诊断为具有正常智力和其他典型发育的儿童，但没有明显的原因，在语言发育方面存在严重和持续的问题。我们知道SLI在家庭中运行，是一种复杂的遗传疾病。这意味着有些人携带某些基因组合，当伴随着特定的环境因素时，使他们对语言缺陷敏感。我们正在研究来自智利一个孤岛的人群，试图确定使个体易患SLI的遗传变异。我们对这个岛屿特别感兴趣，因为他们的语言障碍率非常高（35%）。我们已经观察了他们的DNA，并确定了五个染色体区域，这些区域在受影响的个体中比我们单独预期的更相似。然而，每个区域都很大，包含数百个基因。我们正在申请一笔赠款，以更详细地研究这些染色体片段，并调查可能的替代遗传机制在这一人群中的作用。我们希望这项研究将使我们能够确定有助于SLI易感性的特定基因和遗传元件，并帮助我们发现哪些蛋白质网络在语言习得过程中很重要。

Many children have problems learning to use or understand language and this can for lots of different reasons. We study a particular type of language disorder known as Specific Language Impairment (or SLI). SLI is diagnosed in children who have normal intelligence and otherwise typical development but, for no apparent reason, have severe and persistent problems with language development. We know that SLI runs in families and is a complex genetic disorder. This means that some people carry certain gene combinations that, when accompanied by particular environmental factors, make them sensitive to language deficits. We are working with a population from an isolated island in Chile to try to identify genetic variations that predispose individuals to SLI. We are particularly interested in this island as they have an exceptionally high rate of language impairment (35%). We have already looked at their DNA and have identified five chromosome regions that are more similar in affected individuals than we would expect by chance alone. However, each of these regions is large and contains hundreds of genes. We are asking for a grant to study these chromosome segments in better detail and to investigate the role of possible alternative genetic mechanisms in this population. We hope that this research will allow us to identify specific genes and genetic elements that contribute to SLI susceptibility and help us to discover which protein networks are important in language acquisition processes.