PERICENTRIC INVERSION/RECOMBINANT CHROMOSOME 8 STUDY

近心反转/重组 8 号染色体研究

• 批准号: 3314334
• 负责人: ARTHUR ROBINSON
• 金额: $ 9.81万
• 依托单位: NATIONAL JEWISH HEALTH
• 依托单位国家: 美国
• 财政年份: 1983
• 资助国家: 美国
• 起止时间: 1983-09-30 至 1988-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3314334
• 关键词: Hispanic Americans; chromosome disorders; cytogenetics; developmental genetics; genetic counseling; genetic disorder; genetic disorder diagnosis; genetic manipulation; human population genetics; human subject; pregnancy disorder; spontaneous abortion

Thirty-one individuals have been identified as having a recombinant chromosome 8 (rec 8) secondary to a parental pericentric inversion of chromosome 8 (inv 8). In all cases, the rec 8 has been associated with a highly specific phenotype, including developmental delay. All people with either rec 8 or inv 8 have the same breakpoints and have been of Hispanic descent, with ancestors coming from Northern New Mexico/Southern Colorado. Because of this common heritage and the presence of an inv 8 chromosome in one parent for each individual with the rec 8, a common ancestor is postulated. Extended family pedigrees with subsequent cytogenetic analysis when appropriate, and complete medical and developmental evaluation of individuals with the rec 8 would allow us to meet the following project goals: 1. Identify all rec 8 patients and inv 8 carriers to establish risk and prevalence data. 2. Define both the inv 8 and rec 8 phenotypes at the clinical and cytogenetic levels. 3. Provide family counseling and plan for appropriate medical care. 4. Develop a framework for educating health care providers and the public regarding the significance of this chromosome abnormality. 5. Use cytogenetic findings as a tool for clarifying the ethnohistorical origins of the Hispanic population in the Southwestern United States. The scientific disciplines involved include clinical genetics, pediatrics, cytogenetics, anthropology, education, and population genetics.

31个个体被鉴定为具有重组 8号染色体（rec 8）继发于父母的臂间倒位 8号染色体（inv 8）。 在所有情况下，rec 8都与一个 高度特异性表型，包括发育迟缓。 所有的人与 rec 8或inv 8具有相同的断点，并且是西班牙裔 血统，祖先来自北方新墨西哥州/南方科罗拉多。 由于这种共同的遗传和inv 8染色体的存在， 一个父母为每个个体与rec 8，一个共同的祖先， 假设的。 扩展家系及随后的细胞遗传学分析 在适当的时候，并完成医疗和发展评估， 个人与rec 8将允许我们满足以下项目 目标：1. 确定所有rec 8患者和inv 8携带者， 风险和流行率数据。 2. 定义inv 8和rec 8表型 在临床和细胞遗传学水平上。 3. 提供家庭咨询， 计划适当的医疗护理。 4. 制定教育框架 卫生保健提供者和公众对这一重要性 染色体异常 5. 使用细胞遗传学结果作为工具， 澄清西班牙裔人口的民族历史起源， 美国西南部。 所涉及的科学学科包括 临床遗传学、儿科学、细胞遗传学、人类学、教育学和 群体遗传学