医学遗传学基础看过第四次课-genemutation lyp.pptx

Gene Structure Pathogenic DNA Variants;Part I:Gene Structure;;;Gene: a unit of heredity composed of DNA occupying a fixed position on a chromosome, it may determine a characteristic of an individual by specifying a polypeptide chain that forms a protein or part of a protein (structural gene); or encode an RNA molecule; or regulate the operation of other genes or repress such operation A modern working definition of a gene: a locatable region of genomic sequence, corresponding to a unit of inheritance, which is associated with regulatory regions, transcribed regions, and or other functional s