CARRIER TESTING IN FRAGILE X SYNDROME: MENTAL RETARDATION & BIOETHICS

脆性 X 综合症的携带者测试：智力低下

• 批准号: 6491972
• 负责人: ALLYN MCCONKIE-ROSELL
• 金额: $ 29.46万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-09-01 至 2002-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6491972
• 关键词: biomedical resource; child (0-11); female; genetics; human subject; male; oral pharyngeal

Amelogenesis imperfecta appears to exhibit genetic heterogeneity, with autosomal dominant, X-linked and possible autosomal recessive modes of inheritance being implicated. These investigations are undertaken to confirm and establish additional genetic linkages as well as to establish the molecular basis of the disorder and any relationships between the specific locus(loci) involved and phenotypic variability.

牙釉质发生中，牙釉质发育的个体表现出遗传异质性， 常染色体显性、X连锁和可能的常染色体隐性 遗传方式有牵连。 这些调查 确认和建立更多的遗传联系， 以及建立疾病的分子基础， 所涉及的特定基因座与表型之间的关系 可变性