Diseases Deriving from Alterations of the Genotype
摘要
Alterations of an organism’s genotype (or genome) are caused by point modifications of the DNA, i.e., mutations, or even by massive alterations such as duplication or loss of a chromosome, duplication or loss or inversion of a segment of DNA, etc. For simplicity of discussion, we will discuss mainly about mutations, although in logical terms, the discussion will often refer to the other alterations as well.