摘要
目的探究Gene ORGANizer在小耳畸形的候选基因及伴发综合征相关研究中的应用。方法自2021年10月至2022年1月,中国医学科学院北京协和医学院整形外科医院外耳整形再造一科采用“Gene ORGANizer”工具,基于现有遗传疾病及表型,通过条件筛选,检索并整理小耳畸形的候选基因及综合征。结果共获得53类与小耳畸形相关的疾病/综合征,共累及134个候选基因。结论Gene ORGANizer是一种能较好地将基因与遗传疾病或表型、器官三者关联的应用工具,我们在小耳畸形研究中,初步利用该工具,得到了潜在候选基因及相关综合征,并由此简要总结了部分综合征表型。
Objective To explore the application of Gene ORGANizer in the study of candidate genes and associated syndromes of microtia.Methods From October 2021 to January 2022,the First Center of External Ear Plastic and Reconstruction of the Plastic Surgery Hospital of Chinese Academy of Medical Sciences and Peking Union Medical College used the"Gene ORGANizer"tool to search and sort out candidate genes and syndromes of microtia based on existing genetic diseases and phenotypes.Results We found 53 kinds of diseases and/or syndromes related to microtia,involving 134 candidate genes.Conclusion Gene ORGANizer is an application to associate genes with genetic diseases or phenotypes and organs.In the study of microtia,we preliminarily used this tool to obtain potential candidate genes and related syndromes,and briefly summarized some syndrome phenotypes.
作者
唐宏涛
潘博
TANG Hongtao;PAN Bo(First Center of External Ear Plastic and Reconstruction,Plastic Surgery Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100144,China)
出处
《中国美容整形外科杂志》
CAS
2022年第12期736-739,I0008,I0009,共6页
Chinese Journal of Aesthetic and Plastic Surgery
基金
中国医学科学院医学与健康科技创新工程项目(2021-I2M-1-052)。
