Medical genetics, which is a frontier subject in biomedicine, is the clinical core of gene diagnosis and gene therapy. In the training of medical students, medical genetics plays an important role in bridging basic medicine and clinical medicine. In recent years, problem-based learning (PBL) has been widely used in medical education as an important method to cultivate the autonomous learning ability of medical students. In the current study, we designed and shared the research on brachydactyly type A2 (BDA2) as the main case of PBL teaching, in order to guide the students towards autonomous learning, and to cultivate independent analysis and problem solving ability instead of simple knowledge acquisition. Such excellent academic teaching will provide more high quality medical talents and internationally competitiveness for constructing a healthy China.
医学遗传学是生物医学中的前沿学科，也是临床基因诊断和基因治疗的核心内容。在医学人才培养中，医学遗传学扮演着衔接基础医学与临床医学的重要角色。近年来，基于问题的学习(problem-based learning，PBL)作为培养医学生自主学习能力的重要方法，在医学教育中得到了广泛的应用。本文设计并分享了以A2型短指(趾)症(brachydactyly type A2，BDA2)研究为核心的PBL教学案例，以期引导学生自主学习，以能力培养代替知识传授，培养学生独立分析和解决问题的能力以及创新性思维的卓越学风，为健康中国建设输送更多具有国际竞争力的高素质医学人才。.
Keywords: PBL; brachydactyly type A2; medical genetics; mutation; teaching design.