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用现代遗传学的基本原理,来研究人类遗传与疾病的关系,以探索各种遗传疾病,或虽非遗传疾病但与遗传有联系的疾病的发病机理,病理过程、诊断、预防和治疗等问题的科学,叫做医学遗传学。目前,世界各国对医学遗传学都越来越重视。主要原因是:随着医学的进步,许多对人类威胁最大的烈性传染病,已经基本消灭或被控制,而主要由遗传因素引起的疾病,或既有遗传因素又受环境因素影响的疾病就被突出起来。
Using the basic principles of modern genetics to study the relationship between human heredity and disease, to explore the pathogenesis, pathology, diagnosis, prevention, and treatment of a variety of genetic disorders, or genetic disorders linked to non-genetic diseases Science, called medical genetics. At present, all countries in the world pay more and more attention to medical genetics. The main reason is that with the advancement of medicine, many of the most potent infectious diseases to human beings have basically been eliminated or controlled. Diseases mainly caused by genetic factors, or both genetic and environmental factors, have been eliminated Prominent.