NURS 245 Lecture Notes - Lecture 3: Tay–Sachs Disease, Congenital Heart Defect, Mitochondrial Myopathy
Document Summary
Inherited genetic-there was an abnormal mutation in either the egg or the sperm (germ line mutation) and is inherited by all cells; however, only expressed in certain cells that use that part of genome. Acquired genetic-no inherited and not transmitted unless sperm or ovum acquire mutation. Acquired mutation usually occurs in somatic cell and is only expressed in that cell line but is not transmitted to the next generation. Acquired mutations due to mistake in base pairing, due to damage to dna. Congenital disorders: manifestations (the disease process is) present at birth. Genetic-not all inherited genetic disorders manifested at birth. Ex- club foot, torch syndrome caused by maternal infection. *metaplasia-adaptation to an irritation; dysplasia-more persistent and an adaptation to a stressor-both irreversible in theory but once you damage the genome it is irreversible. We can predict the pattern of inheritance because it only involves one gene.
