Genetic analysis of left-right axis malformations

左右轴畸形的遗传分析

• 批准号: 6430096
• 负责人: Maximilian Muenke
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 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/6430096
• 关键词: brain interhemispheric activity; cerebral dominance; clinical research; developmental genetics; developmental neurobiology; gene expression; genetic mapping; human subject; neurogenetics; phenotype

A study of the complex genetics of left-right (L-R) axis malformations will be undertaken with an emphasis on those genes that are associated with common phenotypes of L-R disorders, including situs inversus, heterotaxia and organ isomerism. L-R defects can result from either environmental or genetic causes and it is the aim of these investigations to determine the genes responsible for both normal and abnormal L-R axis formation through the study of patients with these disorders. Mutations in one such gene, ZIC3, have been shown to be responsible for several familial and sporadic cases of heterotaxia. Other genes, including LEFTY A and ACVR2B have been linked to human situs abnormalities as well. We anticipate that many additional genes important for L-R development will be identified in the search for genetic causes of laterality disorders.

将开展左右（L-R）轴畸形的复杂遗传学研究，重点关注与 L-R 疾病常见表型相关的基因，包括内位反位、异位性和器官异构现象。 L-R 缺陷可能是由环境或遗传原因引起的，这些研究的目的是通过对患有这些疾病的患者的研究来确定负责正常和异常 L-R 轴形成的基因。其中一种基因 ZIC3 的突变已被证明是导致几起家族性和散发性异位症病例的原因。其他基因，包括 LEFTY A 和 ACVR2B 也与人体部位异常有关。我们预计，在寻找偏侧性障碍的遗传原因时，将鉴定出许多对左右发育重要的其他基因。