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Human Genetic Diseases (Simple Dominance Inheritance) Dominant Human Diseases • Only have to inherit it from one parent • Having disease is dominant to not having disease • If child has it, a parent must have it also Huntington’s Disease • Inheritance Pattern: Dominant • Symptoms: – Breakdown of brain tissue – Irritability, forgetfulness, loss of coordination Huntington’s Disease (cont.) • Other Important Information: – Rare but lethal – Symptoms show up between 30-50 years old • May have already had kids Catfish Hunter Woody Guthrie Example Problem: • A man who is homozygous for HD and a woman that does not have HD have a child. What is the chance that the child will have HD? Achondroplasia • Dwarfism • Inheritance Pattern: Dominant • Symptoms: – Short arms and legs – Normal skull and torso Achondroplasia (cont.) • Other Important Information: – Inhibits bone growth (cartilage slow to turn to bone) – Most have normal life expectancy Example Problem: • What is the chance of 2 dwarfs that are heterozygous for the disease to have a child that is normal sized? Recessive Human Diseases • Not having disease is dominant over having the disease • Have to inherit the recessive allele from both parents (i.e. 2 little letters) • A person can be a CARRIER (heterozygous) for the disease and not show symptoms • If two carriers have a child, the child has a 25% chance of having the disease • A child can have it without either parent having it Cystic Fibrosis • Inheritance Pattern: Recessive • Symptoms: – Overproduction and buildup of mucus in lungs and digestive tract – Difficulty breathing – Salty skin Cystic Fibrosis (cont.) • Other Important Information: – Avg. life expectancy 30 – 40 years – Most common genetic disease in white Americans – Treatment: physical therapy, gene therapy, special diet Gene Therapy Example Problem: • A child’s mom is completely normal. His dad is a carrier for CF. What is the chance that the child will also be a carrier? Other Weird Genetic “Conditions” Vadoma Tribe – Zimbabwe - Ostrich-toed (ectodactyly) Blue people of Troublesome Creek -Result from lack of an enzyme -Causes abnormal hemoglobin Old Slides Phenylketonuria (PKU) • Inheritance Pattern: Recessive • Symptoms: – a.a. phenylalanine accumulates in body and damages CNS → brain damage – Now can be detected at birth before brain damage occurs PKU (cont.) • Other Important Information: – Treatment: • Babies – diet low in milk until brain is fully developed • Pregnant women – limit milk, diet foods, protein Example Problem: • A woman has PKU. A man is completely normal. What is the chance of their child having PKU?