SINGLE GENE MUTATION DISEASES1.AUTOSOMAL DOMINAN Affects males, females equally If you have the gene, you have the disease Every affected individual has an affected parent Normal siblings of affected individuals do not transmit disease (no unaffected carriers) Autosomal dominant: 1.Achondroplastic Dwarfism 2.Familial Hypercholestrolemia 3. Huntingtons Disease 4.Polydactyly 5.Porphyria

HUNTINGTON DISEASE NEUROFIBROMATOSIS MYOTONIC DYSTROPHY TUBEROUS SCLEROSIS POLYCYSTIC KIDNEY HEREDITARY SPHEROCYTOSIS VON WILLEBRAND DISEASE MARFAN SYNDROME EHLERS-DANLOS SYNDROMES(some) OSTEOGENESIS IMPERFECTA ACHONDROPLASIA FAMILIAL HYPERCHOLESTEROLEMIA ACUTE INTERMITTENT PORPHYRIA

2.AUTOSOMAL RESSESIVE