HLTH 335 1st Edition Exam 2 Study Guide Lectures 5 7 Lecture 5 Heredity The Basics DNA the blueprint for directing cell activities Chromosomes assembled strands of DNA within the nucleus 44 autosomes 22 pairs 2 sex chromosomes Female XX Male XY Karyotype the complete chromosomal composition Chromosomes can be extracted from the nucleus photographed under a microscope in order to detect abnormalities Autosomal Dominant Diseases Occur through transmission of a dominant allele Offspring have 50 chance of being affected if one parent has normal karyotype Males and females have equal chance of being affected Examples of Autosomal Dominant Diseases Polydactyly having extra fingers or toes Achondroplasia autosomal dominant Abnormal cartilage formation Marfan syndrome autosomal dominant The connective tissue protein fibrillin is missing people are tall and thin believe Lincoln had it Familial hypercholesterolemia Autosomal Recessive Diseases Disease manifests when individual is homozygous for the defective allele Heterozygous parents are carriers they do not have the disease Child has a 25 chance of being affected Recessive allele appears more frequently in close intermarriages Examples of Autosomal Recessive Diseases Sickle cell anemia The black population most at risk 1 in 12 are carriers Hemoglobin is abnormal results in deformed red blood cells Deformed cells lodge and block circulation SUPER INTERESTING FACT Heterozygous individual does not have the disease but will experience mild anemia BUT The defective allele confers increased resistance to malaria which kills 2 million people a year Watch this http www youtube com watch v 2CsgXHdWqVs More Examples Galactosemia Tay Sachs disease Albinism Be able to tell everything you know about one of these Ex incidence rate who is most affected etc Examples of Sex Linked Diseases Color blindness inability to distinguish colors specifically between red and green Rare in women Occurs in 1 out of 10 men Hemophilia Inactivation of an intrinsic clotting factor causes bleeding for longer period of time than normal NOT faster or more profuse bleeding just bleeding for longer periods of time Down Syndrome Life Expectancy 70 75 of DS babies will die in utero Of live births 15 die before one year of age 35 die before 50 years of age 50 live beyond 50 years of age FACT In 1929 50 only lived to age 10 Genetic Counseling A genetic counselor usually begins with a complete family history of both prospective parents A complete detailed family history is called a pedigree Pedigrees demonstrate the pattern of inheritance of a genetic disease within a family When the pedigree is complete the genetic counselor can inform prospective parents of the possibility of having genetically abnormal offspring and they can make an informed decision Congenital Diseases Appear at birth or shortly after but they are not caused by genetic or chromosomal abnormalities Congenital defects usually result from some failure in development during the embryonic stage or in the first 2 months of pregnancy Therefore congenital diseases cannot be transmitted to offspring 2 3 of all newborn infants have congenital defects that are recognizable at birth Additional 2 3 defects NOT recognized at birth developmental defects demonstrated later as infants grow older 25 50 spontaneously aborted embryos fetuses and stillborn infants have major malformations Lecture 6 Heart Valves 4 valves tricuspid pulmonary mitral aortic Act as restraining gates to control the direction of blood flow Situated at the entrances and exits to the ventricles When properly functioning valves allow blood to flow only in the forward direction by blocking it from returning to the previous chamber Three Types of Blood Vessels Arteries large thick walled vessels that carry blood away from the heart Veins carry blood back to the heart Capillaries connecting units between the arteries and veins They are very thin and carry oxygen rich blood from the arteries to the body cells Hypertension High BP Blood flow in the arteries results from the force of ventricular contraction Pressure is highest when ventricles contract systolic pressure Pressure is lowest when ventricles relax diastolic pressure A BP reading is given as systolic over diastolic pressure e g 120 60 mm Hg Take Action to Reduce Your BP and Save Your Life Lose weight Weight loss is the single most effective non drug method to reduce blood pressure Exercise 30 to 35 minutes of exercise three times per week can decrease blood pressure especially when combined with weight loss Limit alcohol Alcohol raises blood pressure even without hypertensive disease Reduce fat intake and increase vegetable and fruit intake A diet high in vitamins and low in fats is associated lower blood pressure Reduce dietary salt Intake less than 2400 MG per day or less than 1 TSP Hyperlipidemia Hyperlipidemia general term used to describe an elevation of lipids or fats in the blood Lipids include cholesterol cholesterol esters phospholipids and triglycerides Cholesterol is a soft waxy substance that forms cell membranes and various hormones It is transported throughout the systemic circulation by transport proteins called lipoproteins HDL High Density Lipoproteins LDL Low Density Lipoproteins LDL vs HDL LDL carries bad cholesterol Transports cholesterol from blood stream into cells Can infiltrate arterial walls Correlated to atherosclerosis HDL carries good cholesterol Removes cholesterol from cells and carries it to liver for excretion Provides protection against heart disease Factors that raise HDL levels Regular exercise cessation of cigarette smoking a modest regular intake of alcoholic beverages Atherosclerosis vs Arteriosclerosis Diseases of the arteries characterized by plaque build up Significantly contribute to the development of other diseases in the CV system most notably heart disease Commonly referred to as hardening of the arteries Atherosclerosis Fat build up in arteries Arteriosclerosis Thickened artery walls which can be caused by Treatment and Control of Atherosclerosis Arteriosclerosis Control of blood pressure Reduction of cholesterol Smoking cessation Lifestyle changes Medications anti hypertensive meds cholesterol lowering meds Peripheral Arterial Disease PAD Diseases that affect peripheral arteries are similar to those affecting the coronary heart or carotid brain arteries produce ischemia or lack of blood and oxygen supply pain impaired function tissue damage and tissue