概念在遗传病中,单基因病占相当大的比例,据McKusick 1981年统计,单基因病(包括异常性状)已达3,358种,其中有的发病率也很高,如遗传性血液病(主要是地中海贫血和镰状细胞贫血),全世界就有1亿人以上,每年约20万儿童死于本病。故有必要对基因突变及其引起的疾病作一概括性了解。 The concept of genetic diseases, monogenic diseases account for a large proportion, according to McKusick in 1981 statistics, monogenic (including abnormal traits) has reached 3,358 species, some of which are also high incidence, such as hereditary blood diseases (mainly Is thalassemia and sickle-cell anemia), there are more than 100 million people worldwide and about 200,000 children die from this disease each year. Therefore, it is necessary to make a general understanding of gene mutations and the diseases caused by them.