NURS 245 Lecture Notes - Lecture 1: Germline Mutation, Pitx1, Achondroplasia
Document Summary
Geneic disorders: inherited, acquired, polygeneic, congenital. Mutaion is in the egg, sperm, or both. Which cells inherit mutaion: every cell in the ofspring, but not every cell will express the mutaion. Can be transmited to the next generaion: single gene inherited disorders. Disorders caused by a germ line mutaion of only one single cell. Ex: liver cell (anything that is not a sex cell) These mutaions will not be inherited nor transmited. Excepion: if the mutaion is acquired by ovum or sperm cells: can be caused by: Polygeneic: muliple genes afected, can be inherited or acquired or both, the degree of genes (and thus proteins) afected can someimes lead to the severity of the disorder. Ex: schizophrenia, atherosclerosis, cancer, myelomeningocele (spina biida)- congenital. Problem: bones of the spine don"t completely form, leading to an incomplete spinal canal. Acquired/environmental factors: inadequate levels of folic acid in the mother. End result: the spinal cord protrudes out of the baby"s body.
