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What is PKU? • PHENYLKETONURIA (PKU) – PAH gene on long arm of chromosome 12 is absent/reduced – Excess phenylalanine interferes with brain development • Autosomal recessive disorder 1:10,000-15,000 births • Effects: retardation, seizures, destructive, restlessness What is Hemophilia? • AKA: Factor VIII deficiency • Blood clotting disorder usually affecting males – 1 in 5,000 • Abnormal protein “Factor VIII” created – Factor VIII necessary for blood clotting – Clotting takes longer • Severity varies based on amount of Factor VIII produced • Sex-linked disorder (found on X chromosome) Treatments • Factor VIII Replacement: – Intravenous injections of Factor VIII – Causes proteins to help clotting • Joint Replacement – Knee, hip, ankle replacement if arthritis is severe • Regular exercise for strong muscles to protect the weak joints Alcohol Related Disorders Two categories: 1) Alcohol Abuse: pattern of constant intoxication, daily, blackouts, unsuccessful attempts to stop 2) Alcohol Dependence (alcoholism): Alcohol abuse and increased tolerance or withdrawal symptoms – Becomes evident within first 5 years of drinking Inheritance • Alcoholism often found in several generations of families • Multiple genes probably contribute – Genes & enzymes affect how alcohol is metabolized • Familial Alcoholism – Positive family history – Early onset (in the 30s) – More severe The genetics staff explains to Martha that at age 40, the risk of delivering a child with Down syndrome is about 1 in 110. Martha’s drinking is discussed again in light of her pregnancy. Fetal alcohol syndrome is reviewed, and Martha is strongly advised to stop drinking for the duration of her pregnancy. Familial Hypercholesterolemia (FH) • Cholesterol basics – LDL: bad cholesterol – HDL: good cholesterol • Gene on chromosome #19, makes body unable to remove LDL • Cholesterol levels unregulated – LDL builds up • Potentially fatal • Autosomal dominant The human genome contains about 3 billion base pairs, of which only about 3% constitute expressed genes. The non coding regions of the genome vary tremendously and may differ between individuals by changes in single base pairs of different numbers of repeats of a particular base pair sequence. DNA goes through a form of “digestion”, where regions of DNA are cut by restriction enzymes, which recognize specific sequences. This leaves various lengths of fragments called restriction fragment length polymorphisms (RFLPs). For every individual, half of the DNA is from mom, half from dad…. So, for a given region of DNA, one fragment length is inherited from mom and one from dad. We use RFLPs as a form of paternal testing, which sizes the fragments. Fetal effects of smoking • ~25% pregnant woman smoke • Blood vessels constricted – Reduced blood flow • Low birth weight • 30% higher death rates • More prone to infections B-Thalassemia • Gene disorder: Autosomal recessive • Red blood cell deficiency • Common ethnicities: – African decent – Mediterranean decent – SE Asian decent • Early heart & spleen disease • Treatments: Blood transfusions Cystic Fibrosis • Autosomal recessive • Faulty gene causes mucus to build up in lungs, – Become infected • Lung damage usually causes early death • Treatments: Transplants, chest thumping, antibiotics Huntington’s Disease • • • • Autosomal dominant Death of nerve cells in brain Signs show around middle age Due to defective (misshaped) gene