Genetic studies of Amish and Anabaptist sects

阿米什教派和再洗礼教派的遗传学研究

• 批准号: 6555940
• 负责人: LESLIE G BIESECKER
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 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/6555940
• 关键词: Mennonite; congenital disorders; congenital oral /facial /cranial defect; family genetics; genetic disorder; genetic mapping; glycogen storage disease type VI; human genetic material tag; human population genetics; human subject; hypotonia; information systems; mental retardation; micrencephaly; molecular biology information system; molecular pathology; muscle disorders; patient oriented research

The aim of this study is two-fold. First is to develop genealogical resources to allow advanced studies of the heritability of disorders in the Old Order Amish and related Anabaptist sects. This groups are important to study because they are small, well defined population isolates. In addition, they are enthusiastic historians and have excellent printed genealogical records. We have accomplished much of the first goal by building the Amish Genealogy Database (AGDB) and several computational tools to analyze that database including PedHunter. These tools allow us to generate accurate pedigrees for genetic study in a accurate and rapid fashion. The second goal is to study the genetics of heritable disorders in these groups. To that end we have already cloned the genes that are altered in Glycogen storage disease type 6, McKusick-Kaufman syndrome, Amish Nemaline Myopathy, and are currently working on Amish Microcephaly. Molecular insight into these disorders coupled with followup studies and pre-conceptual screening will allow development of effective means to diagnose patients early and provide optimal medical treatment.

这项研究的目的是双重的。首先是开发家谱资源，以便对旧秩序阿米什教派和相关的再洗礼教派的疾病遗传性进行深入研究。研究这些群体很重要，因为它们是小的、定义明确的种群分离物。此外，他们是热心的历史学家，并有优秀的印刷家谱记录。我们已经完成了第一个目标的大部分，建立了阿米什家谱数据库（AGDB）和一些计算工具来分析该数据库，包括PedHunter。这些工具使我们能够以准确和快速的方式为基因研究生成准确的谱系。第二个目标是研究这些群体中遗传性疾病的遗传学。为此，我们已经克隆了6型糖原储存病、McKusick-Kaufman综合征、阿米什Nemaline肌病中发生改变的基因，目前正在研究阿米什小头症。对这些疾病的分子洞察，加上后续研究和孕前筛查，将有助于开发早期诊断患者并提供最佳医疗的有效手段。