GENETIC CAUSES OF LIMB MALFORMATIONS

四肢畸形的遗传原因

• 批准号: 6274740
• 负责人: JEFFREY W INNIS
• 金额: $ 2.15万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-12-01 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6274740
• 关键词: Epstein Barr virus; cell line; clinical research; congenital skeletal disorder; gene expression; genetic mapping; human genetic material tag; human subject; limbs; lymphoblast; tissue /cell culture

The overall aim of this project is to identify the gene or genes responsible for limb malformations in humans. The Human Genetic Studies Core and Cell immortalization Laboratory of the CRC would be utilized for the production of immortalized cell lines from subjects as they are identified. The availability of lymphoblast cells will facilitate delineation of the specific genetic defect. Lymphocytes will be immortalized with EBV to provide a renewable supply of cells and DNA for analysis.

该项目的总体目的是识别基因或基因 负责人类的肢体畸形。 人类遗传研究 CRC的核心和细胞永生实验室将被使用 为了产生来自受试者的永生细胞系 确定。 淋巴细胞细胞的可用性将有助于 特定遗传缺陷的描述。 淋巴细胞将是 用EBV永生，提供可再生的细胞和DNA供应 分析。