MOLECULAR GENETICS OF HEMOPHILIA A

A 型血友病的分子遗传学

• 批准号: 2714002
• 负责人: HAIG H. KAZAZIAN
• 金额: $ 30.87万
• 依托单位: UNIVERSITY OF PENNSYLVANIA
• 依托单位国家: 美国
• 财政年份: 1987
• 资助国家: 美国
• 起止时间: 1987-04-01 至 2000-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2714002
• 关键词: Adenoviridae; chromosome inversion; coagulation factor VIII; complementary DNA; disease /disorder model; frameshift mutation; gene frequency; gene mutation; gene therapy; genetic disorder; genetic mapping; genetic recombination; hemophilia As; human genetic material tag; laboratory mouse; molecular genetics; nucleic acid sequence; polymerase chain reaction; sex chromosomes; transfection /expression vector

DESCRIPTION: Inversions causing hemophilia A in man will be analyzed by extensive analysis of the three A homologous genes on the X chromosome, one of which lies within the factor VIII gene and gives rise to hemophilia A up to 50% of sporadic cases by intrachromosomal homologous recombination with one of the other two A genes. An animal model of hemophilia A will be produced by homologous recombination in mice. This model will be used to study the potential of somatic cell gene therapy and the development of inhibitory antibodies to factor VIII.

描述：导致血友病A的反演将是 通过对三个A上的同源基因的广泛分析进行分析 X染色体，其中之一位于VIII因子内，并给出给出的染色体。 升至血友病，多达50％的零星病例 与其他两个A基因之一同源重组。 动物 血友病A的模型将通过同源重组产生 在老鼠中。 该模型将用于研究 体细胞基因疗法和抑制性的发展 VIII因子的抗体。