EFFECTS OF A LOCUS ON SPEECH-SOUND DISORDER AND READING

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 言语发音障碍(SSD)是一种复杂的行为障碍，其特征是发音错误与发音、语音加工和认知语言加工有关。SSD在儿童时期很普遍，并与语言、拼写和阅读障碍或阅读障碍并存。先前的研究表明，与言语和语言习得相关的领域的发育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阅读障碍的候选区域，其中一个位于3号染色体上的区域分离于一个庞大的芬兰家系。为了探索对SSD和阅读的共同遗传影响，我们在77个通过SSD儿童证实的家庭中检查了几个数量性状与3号染色体着丝点周围区域标记的联系。量化分数测量了语音产生的几个基本过程，包括语音记忆、语音表示、发音、接受性和表现性词汇，以及阅读解码和理解技能。在无模型连锁分析之后，确定了有连锁的同胞对并构建了核心共享单倍型。在我们的多点分析中，语音记忆的测量显示出最强的联系。单字阅读测试也显示出关联(真实单词阅读：标记D3S2465，P=0.004；无意义单词阅读：标记D3S1595，P=.005)。具有相似性状值的同胞对的最小共有单倍型跨度为4.9 cM，并由标记D3S3049和D3S3045界定。我们的结果表明，SSD和阅读障碍的共同结构域受到3号染色体上一个假定的数量性状基因座的多向性影响。

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 examined linkage for several quantitative traits to markers in the pericentrometric region of chromosome 3 in 77 families ascertained through a child with SSD. The quantitative scores measured several processes underlying speech-sound production, including phonological memory, phonological representation, articulation, receptive and expressive vocabulary, and reading decoding and comprehension skills. Model-free linkage analysis was followed by identification of sib pairs with linkage and construction of core shared haplotypes. In our multipoint analyses, measures of phonological memory demonstrated the strongest linkage. Tests for single-word decoding also demonstrated linkage (real word reading: marker D3S2465,P = .004; nonsense word reading: marker D3S1595,P = .005). The minimum shared haplotype in sib pairs with similar trait values spans 4.9 cM and is bounded by markers D3S3049 and D3S3045. Our results suggest that domains common to SSD and dyslexia are pleiotropically influenced by a putative quantitative trait locus on chromosome 3.