EFFECTS OF A LOCUS ON SPEECH-SOUND DISORDER AND READING

这个子项目是许多利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 言语-声音障碍（Speech-sound disorder，SSD）是一种复杂的行为障碍，其特征在于与清晰度、语音过程和认知语言过程的缺陷相关的言语-声音产生错误。SSD在儿童时期很普遍，并且与语言障碍、拼写障碍和阅读障碍或诵读困难共病。先前的研究表明，与言语和语言习得相关的领域的发展问题会使儿童面临阅读障碍的风险。最近的遗传学研究已经确定了几个候选区域的阅读障碍，包括一个在3号染色体上分离在一个大的芬兰血统。为了探索SSD和阅读的共同遗传影响，我们对先前与阅读障碍相关的区域进行了连锁分析。 我们发现，与语音记忆、词汇、语音产生和语音表征相关的数量性状与1号、3号、6号和15号染色体上的区域有关。 这些结果表明，共同的SSD和阅读障碍的域是多效性的影响，在这些染色体区域的基因座。 最近，我们已经完成了基因分型的Affyoung 250 k SNP芯片在这些家庭的一个子集，通过与SSD的孩子确定。 我们未来的计划包括分析这些全基因组关联数据以及新的候选基因SNP数据。 此外，我们计划进行结构方程模型分析，以理清学龄前语言声音内表型，学龄阅读措施，和相关的候选基因之间的关系。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Speech-sound disorder (SSD) is a complex behavioral disorder characterized by speech-sound production errors associated with deficits in articulation, phonological processes, and cognitive linguistic processes. SSD is prevalent in childhood and is comorbid with disorders of language, spelling, and reading disability, or dyslexia. Previous research suggests that developmental problems in domains associated with speech and language acquisition place a child at risk for dyslexia. Recent genetic studies have identified several candidate regions for dyslexia, including one on chromosome 3 segregating in a large Finnish pedigree. To explore common genetic influences on SSD and reading, we have conducted linkage analysis of regions previously linked to dyslexia. We have found that quantitative traits related to phonological memory, vocabulary, speech-sound production, and phonological representation are linked to regions on chromosomes 1, 3, 6, and 15. These results suggest that domains common to SSD and dyslexia are pleiotropically influenced influenced by loci in those chromosomal regions. Recently, we have completed genotyping of an Affymetrix 250k SNP chip in a subset of these families ascertained through a child with SSD. Our future plans include analyzing these genome-wide association data as well as new candidate gene SNP data. In addition, we plan structural equation modeling analyses to disentangle the relationship between pre-school speech-sound endophenotypes, school-age reading measures, and associated candidate genes.