Genetic Studies In Stuttering

口吃的遗传学研究

• 批准号: 6531850
• 负责人: ALLEN R BRAUN
• 金额: --
• 依托单位: NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6531850
• 关键词: child (0-11); clinical research; developmental genetics; developmental neurobiology; family genetics; gene frequency; genetic polymorphism; genotype; human subject; interview; linkage mapping; neurogenetics; neuroimaging; neuropeptide receptor; phenotype; stuttering

The purpose is to establish the neurobiological substrate of developmental stuttering using genetic linkage techniques. The goal is to identify gene products which may be used to develop neuroimaging techniques, which themselves may be used to characterize the neurobiology of developmental stuttering. The first arm of this project involves genetic linkage analysis in large multiplex families with members from several generations who stutter. This study represents a collaboration with Mark Leppert of the University of Utah. We are evaluating a large multigenerational kindred with branches in Idaho, Utah and Maine and a second large kindred in Texas. Both phenotyping and genotyping have been completed and data are being evaluated. As a result of publicizing the study among speech-language pathologists specializing in fluency disorders, we have ascertained a number of additional kindreds whose members have agreed to participate. The second arm of this project involves candidate gene analyses, evaluating the frequencies of DNA polymorphisms for which gene products represent neurotransmitter receptors or rate-limiting synthetic enzymes of central serotonin and dopamine systems. Individuals who have previously participated in other stuttering-related programs of the Section and their parents are being studied. Blood samples have been collected and DNA extracted from approximately 30 individuals who have consented to participate. Recruitment continues for this portion of the study.

目的是使用遗传连锁技术建立发育口吃的神经生物学底物。目的是识别可用于开发神经影像技术的基因产品，这些基因产物本身可以用来表征发育口吃的神经生物学。该项目的第一臂涉及大型多重多重家族的遗传连锁分析，该家族有几代人口吃的成员。这项研究代表了与犹他大学的马克·莱珀特（Mark Leppert）的合作。我们正在评估在爱达荷州，犹他州和缅因州的大型多代亲属，以及德克萨斯州的第二个大型亲戚。表型和基因分型都已经完成，并且正在评估数据。由于在专门研究流利性障碍的语言病理学家中宣传这项研究的结果，我们确定了许多其他成员同意参加的其他类似物品。该项目的第二组涉及候选基因分析，评估基因产物代表神经递质受体的DNA多态性的频率或中央羟色胺和多巴胺系统的限制合成酶。以前曾参加过该节的其他与口吃相关的计划及其父母的个人。已经收集了血液样本，并从约有30名同意参与的个体中提取DNA。这部分研究继续招聘。