ANALYSIS OF GENETIC HETEROGENEITY IN FANCONI ANEMIA

范可尼贫血遗传异质性分析

• 批准号: 3785802
• 负责人: DAVID M. CARTER
• 金额: --
• 依托单位: ROCKEFELLER UNIVERSITY
• 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/3785802
• 关键词: cytogenetics; deToni Fanconi syndrome; genetic disorder diagnosis; genetic mapping; human genetic material tag; human subject; molecular pathology; prenatal diagnosis

Autosomal recessive, unknown cause, resembling (X-linked) dyskeratosis congenita. Marked variability in clinical presentation and course. Cells hypersensitive to dysfunctional clastogenic alkylating agents and oxygen-induced free radicals. This test used for prenatal diagnosis of FA. Studies: correlating clinical and cytogenic data from complementation analysis of euploid somatic cell hybrids; causes and potential correction of retarded growth and marrow failure; mapping the FA gene(s).

常染色体隐性遗传，原因不明，类似于（X连锁）角化不良 先天性。 临床表现和病程存在显着差异。 细胞对功能失调的致突变烷化剂过敏和 氧诱导的自由基。 该测试用于产前诊断 FA。 研究：关联临床和细胞遗传学数据 整倍体体细胞杂交体的互补分析；原因和 潜在纠正生长迟缓和骨髓衰竭；映射 FA 基因。