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.

目的是利用遗传连锁技术建立发育性口吃的神经生物学基础。目标是鉴定可用于开发神经影像技术的基因产物，这些技术本身可用于表征发育性口吃的神经生物学特征。该项目的第一部分涉及对具有几代口吃成员的大型多重家族进行遗传连锁分析。这项研究是与犹他大学的马克·莱珀特 (Mark Lepert) 合作进行的。我们正在评估一个在爱达荷州、犹他州和缅因州设有分支机构的大型多代亲属，以及在德克萨斯州的第二个大型亲属。表型和基因分型均已完成，数据正在评估中。通过在专门研究流畅性障碍的言语病理学家中宣传这项研究，我们确定了许多其他家族的成员已同意参与。该项目的第二部分涉及候选基因分析，评估 DNA 多态性的频率，其中基因产物代表神经递质受体或中枢血清素和多巴胺系统的限速合成酶。之前参加过该科其他口吃相关项目的个人及其父母正在接受研究。已从同意参与的约 30 名个人身上采集了血样并提取了 DNA。这部分研究的招募仍在继续。