基因突变与效应.ppt

02 基因突变和分子细胞生物学效应Gene Mutation and Cellular Effects 第二章 基因突变与细胞分子生物学效应 第一节 基因突变的形式与分子机制 第二节 基因突变的细胞分子生物学效应 教学要求 1．掌握动态突变疾病的概念，了解其临床及遗传学特征。 2．掌握功能丢失突变、功能增强突变和分子病等基本概念。 3．掌握基因突变导致蛋白质功能改变的机制。 4．掌握基因突变引起性状改变的分子机制。 5．熟悉常见先天性代谢病发病的分子机制和主要临床表现。 Gene Mutation Change in genes caused by change in structure of the DNA. Base(s) in DNA is (are) changed to other(s), or a base(s) is (are) added or removed. Rearrangements of the chromosomes occur and are also considered. Mutations are heritable changes in genetic material. Character of Gene Mutation Inducer of Gene Mution Mechanism of Mutation Static mutation Dynamic mutation Static mutation Microalterations Macroalterations Microalterations involve single base pairs. Transitions: Purine changes to an alternate purine; pyrimidine changes to an alternate pyrimidine. Transversions: A position with a pyrimidine changes to have a purine; or, purine to pyrimidine Macroalterations are large changes, such as duplications, deletions, inversions or rearrangements of a large number of bases. Result of mutation Missense mutation When a single base pair causes the substitution of one amino acid for another, it is called a missense mutation. Nonsense mutation When a single base pair change, deletion or insertion result in the generation of a premature translation termination because of the generation of a new stop codon, this is called a nonsense mutation. Frameshift mutations Frameshift mutations are the result of a single base, or more, insertion or deletion. The result can be the generation of an entirely different protein from the point within the coding region where it occurs. Dynamic mutation The term ‘dynamic mutation’ was introduced to distinguish the unique properties of expanding, unstable DNA repeat sequences from other forms of mutation. The past decade has seen dynamic mutations uncovered as the molecula