Genetic Disorders

Recessive Genetic Disorders

Account for MOST human genetic disorders Must receive TWO recessive alleles for the trait in order to phenotypically display the disorder Ex: aa

Carriers Individuals who have one recessive allele for a recessive genetic disorder Ex: Aa These individuals DO NOT have the genetic disorder

Recessive Genetic Disorders 1) Albinism 2) Cystic Fibrosis 3) Phenylketonuria (PKU) 4) Tay - Sachs Disease "PACT"

Albinism Characteristics: No pigmentation in skin Pink Eyes White Hair Treatment: Protect eyes and skin from sun Medical Complications: Skin cancer Life expectancy: Normal

Albinism

Cystic Fibrosis Characteristics: Thick heavy mucus that clogs lungs and breathing passageways Malabsorption of nutrients by the pancreas Treatment: Antibiotics Percussion vest or Chest PT Exercise Medical Complications: Pneumonia Respiratory infections Life Expectancy: Early adulthood

Cystic Fibrosis

Cystic Fibrosis Percussion Vest

Cystic Fibrosis Video Clip H6Q 1Ko&feature=related

Phenylketonuria (PKU) Cause: Body unable to break down the amino acid phenylalanine Characteristics: Mental retardation Seizures Stunted growth Small head Treatment: Diets that limit intake of phenylalanine Drinking special protein formula Medical Complications: Irreversible brain damage Life expectancy: Normal

Foods a person with PKU CAN and CANNOT eat CANNOT EAT Milk Eggs Cheese Nuts Beans Chicken Beef Products Fish CAN EAT Low protein: pasta rice flour bread Vegetables

Tay - Sachs disease Characteristics: "Cherry red" spot in the back of the eye Loss of motor skills Blindness/Deafness Exaggerated startle reaction Treatment: Physical therapy Feeding tube Ventilators Medical Complications: Progressively destroys nerve cells in the brain and spinal cord Unable to eat due to weak swallow Respiratory infections Life expectancy: About age 5

Cherry Red Spot

Tay - Sachs Disease Video Clips uTA&feature=fvw

Dominant Genetic Disorders

Not as common as recessive disorders Only ONE dominant allele is needed for the disorder to be phenotypically displayed

Dominant Genetic Disorders 1) Achondroplasia 2) Huntington's disease 3) Hypercholesterolemia

Achondroplasia "Dwarfism" Characteristics: Normal size torso Short arms and legs Short fingers Treatment: Surgery to prevent lordosis and correct bowed legs Inner ear tubes Growth Hormones (trial) Medical Complications: Sleep Apnea Obesity Bowed legs Lordosis Recurrent ear infections Life expectancy: normal

Achondroplasia

Achondroplasia Clip lH0

Huntington's disease Characteristics: Uncontrolled movements Degeneration of brain cells Loss of intellectual abilities Emotional disturbances Treatment: Medications to decrease movements and control emotional problems Medical Complications: Vital functions such as swallowing, eating, speaking, talking degenerate Life Expectancy: Middle age

Huntington's Brain vs. Normal Brain

Huntington's Disease Clip 72EE 6Pg

Hypercholesterolemia Characteristics: High levels of cholesterol in the blood Clogs arteries Treatment: Medications Diet with reduced fat Medical Complications: Coronary artery disease Heart attack Stroke Life Expectancy: Normal if treated

Clogged Artery due to Hypercholesterolemia

Co Dominant Genetic Disorders

Sickle Cell Anemia Characteristics: Red blood cells shaped like sickles that block blood flow and oxygen to parts of the body Pain Treatment: Pain medication Bone marrow transplant Blood transfusions Supplemental oxygen Medical Complications: Stroke Chest pain High blood pressure Organ damage Blindness Skin ulcers Life Expectancy: Middle age

Sickle Cell

Sickle Cell Anemia Clip 7MVw&feature=related