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Gen Chem II Final
| Question | Answer |
|---|---|
| What is the chemical basis for Down Syndrome? | Extra Chromosome-21 exists in about 95% of cases |
| What are the Traits of Down Syndrome? | Possible severe mental retardation, a small head, short stature, epicanthal folds, congenital heart defects |
| What is the incidence of Down Syndrome (average)? | 1 in every 800 births |
| What is the incidence of Down Syndrome for moms less than 20? | 1 in every 2,000 births |
| What is the incidence of Down Syndrome for moms over 40? | 1 in every 40 births |
| For higher risk moms (over 40), what would genetic counseling recommend? | An amniocentesis, a prenatal test in which a few cells surrounding a fetus are removed in order to examine the chromosomes |
| Can Down Syndrome be treated? | No |
| What is the chemical basis for Cystic Fibrosis? | Missing amino acid phenylalanine in protein. (The responsible gene codes for a protein associated with membranes - absence of phenylalanine in a specific position in this protein) |
| What are the traits of Cystic Fibrosis? | -Affects certain gastrointestinal and respiratory glands -Causes the mucus to become excessive and very viscous, leads to COPD -The Pancreas, bile ducts, and gallbladder often become obstructed |
| Chronic Obstructive Pulmonary Disease (COPD) | Limitation of airflow in the airway that isn't fully reversible, followed by infection, inflammation, and progressive decline. |
| What is the incidence rate of Cystic Fibrosis? | 1 in every 3,300 births |
| What is the most common life-shortening genetic disease in the white population? | Cystic Fibrosis |
| What is the prognosis (median survival rate) of Cystic Fibrosis? | age 35 |
| What is the chemical basis of Duchenne Muscular Dystrophy? | Mutation in the gene responsible for the formation of dystrophin, a protein in muscle cell membranes. DMD results int the absence of this protein. |
| What kind of disease is DMD? | Sex-linked |
| What are the traits of Duchenne Muscular Dystrophy? | Skeletal muscle weakness, defects in muscle proteins, muscle fiber degeneration. |
| What is the prognosis for Duchenne Muscular Dystrophy? | Most patients are confined to a wheelchair by age 12, and die of respiratory complications by age 20 |
| What is the chemical basis of Hemophilia? | Missing proteins: Factor VIII, Factor IX. |
| Do more people have Hemophilia A or B? | Hemophilia A |
| What are the traits of Hemophilia? | Uncontrolled bleeding due to the inability of blood to clot |
| What is coagulation? | The process to stop blood loss from a damaged vessel |
| What is the incidence of Hemophilia? | 1 in every 7,500 live male births |
| What is the treatment necessary for Hemophilia? | Patients need to avoid trauma and require special consideration with even minor procedures and particular types of drugs (e.g. NSAIDS) |
| What is the chemical basis for Sickle-Cell Anemia? | The amino acid valine appears in place of a glutamic acid in one of hemoglobin's chains. |
| What are the traits of Sickle-Cell Anemia? | RBC's become sickle shaped when O2 is in short supply, plug small blood vessels -Can lead to acute pain, blood clots, and areas of tissue death due to a lack of oxygen |
| How is sickle-cell anemia obtained? | Inherited homozygous trait |
| Is there a treatment for Sickle-Cell anemia? | No effective drug |
| Sickle-cell anemia makes you able to survive what other disease? | Malaria |
| What is the chemical basis of Thyroid Hormone Deficiency? | Missing hormone-thyroxine |
| What is the main trait of Thyroid Hormone Deficiency? | Causes cretinism (severely stunted physical and mental growth) in kids |
| What is the number 1 cause of mental deficiency worldwide? | Thyroid Hormone Deficiency |
| What is the treatment for Thyroid Hormone Deficiency? | Administration of thyroxine, hormone that regulates metabolism |
| What is hydrocortisone/cortisol? | Associated with the physical effects of the stress response within the body |
| What is Aldosterone? | Stimulates sodium and water retention, as well as potassium excretion |
| What is the chemical basis of Congenital Adrenal Hyperplasia (CAH)? | Characterized by inadequate synthesis of cortisol or aldosterone -If hydroxylase is absent as well, androgens can't be formed |
| What is the prognosis of CAH? | Most people with CAH can lead normal lives with proper treatment |
| Amino acids become available via the digestion of ________ in the diet and are recycled to make necessary ____________ and _____________. | Amino acids become available via the digestion of PROTEIN in the diet and are recycled to make necessary PROTEINS and ENZYMES. |
| What is the chemical basis of PKU (Phenylketonuria)? | The enzyme hydroxylase is absent/deficient, and dietary phenylalanine accumulates, which affects the brain, which impairs the way neurons are formed and protected. |
| How is PKU obtained? | It's autosomal recessive |
| What are the traits of PKU? | Severe mental retardation, extreme hyperactivity, gait changes, psychosis |
| What is the treatment of PKU? | Lifelong restriction of phenylalanine |
| What is the chemical basis of Tyrosinemia? | Accumulation of tyronsine and lower levels of neurotransmitter's such as dopamine, norepinephrine, and epinephrine. |
| What are the symptoms of tyrosinemia? | Failure to gain weight and grow at expected rate, hematomegaly (enlarged liver), yellowing of the skin and eyes. |
| ______________ are the preferred energy source for the heart muscles, skeletal muslces in exertion, and for during fasting. | Fatty acids |
| Fat metabolism begins by the ____________ of the triglycerides into fatty acids and glycerol. | Hydrolysis |
| What is the chemical basis for Medium-Chain Acyl Dehydrogenase Deficiency (MCADD)? | There are 4 very specific enzymes used to fragment the fatty acid into acetyl-CoA, and for different lengths. If any are missing, that that can't happen. |
| What is the most common defect in the beta-oxydation cycle? | MCADD |
| What is the treatment for MCADD? | IV glucose, low-fat, high-CHO diet |
| Glycogen is..... | form of glucose that is used for storage in the liver and the muscles |
| Glycogen storage diseases are caused by..... | enzyme deficiencies in either glycogen synthesis or breakdown. |
| What is the chemical basis of galactosemia? | Deficiency of the enzyme that can convert galactose to glucose |
| Galactose is an __________ of glucose. | Isomer |
| What are the symptoms of galactosemia? | Liver and kidney problems, learning deficits, cataracts |
| What is the treatment for galactosemia? | Dietary elimination of galactose |
| What is the chemical basis for Lactase Deficiency? | Inability to digest certain CHO's due to the lack of intestinal enzymes |
| What occurs in Lactase Deficiency? | Undigested disaccharides attract water and electrolytes in the gut, producing watery diarrhea. |
| What percentage of the world's population cannot digest lactose? | 75% (More common in Asia, Africa, Native Americans, Mediterraneans). |
| Enantiomers must have a(n) ____________. | Chiral Center |
| What kinds of glycosidic bonds to starch and glycogen have? | Alpha-1,4 glycoside bonds |
| What kind of structure does glycogen have? | Branched structure |
| What kinds of glycosidic bonds does cellulose have? | Beta-1,4 |
| Cholesterol has what kind of structure? | Steroid Structure |
| Amino acids form peptide bonds to make peptides via what kind of reaction? | Condensation reactions |
| As the number of bonds to oxygen increases, the energy produced during combustion of the molecule _____________. | Decreases |
| The fuels derived from ________ have the highest energy content per carbon atom. | Alkanes |
| As we go from methane to some of the heavier alkanes, the heat of combustion ________. | Increases |
| What is a triglyceride made up of? | 3 fatty acids and a glycerine |
| Oxygen has to be attached to a(n) _________ to be an acid. | Carbon |
| Which functional group is present in a triglyceride? | An ESTER, NOT a carboxylic acid. Oxygen has to be connected to a carbon to be an acid. |
| Only _____ unsaturated fatty acids commonly occur in nature. | Cis |
| Acids = compounds to (lose/gain) H+. | Lose |
| Are acids prognated or deprognated? | Deprognated |
| Carboxylic acids in the protonated or acidic form are water soluble if there are how many carbons atoms in the structure? | 5 or fewer |
| What is the relative acidity of these three compounds: alcohol, carboxylic acid, phenol. | Carboxylic acid > phenol > alcohol |
| Fatty acids in triglycerides can be converted into.... | Bio-diesel fuel |
| Do morphine and NSAIDS operate under the same mechanism of pain relief? | No. Morphine actually binds at the receptor site, NSAIDS work by preventing the production of pain and inflammation-signaling molecules. |
| Condensation of Carboxylic Acids: | Carboxylic Acid + Alcohol --> ester + water Carboxylic Acid + Amine --> amide + water |
| Condensation to make triglycerides: | 3 fatty acids + glycerine --> triglyceride + water |
| What's the reverse of condensation? | Hydrolysis |
| Hydrolysis of esters: | Ester + OH- + water --> carboxylate + alcohol |
| What kind of reaction is saponification? | Hydrolysis |
| What is saponification? | The reaction of a triglyceride with aqueous hydroxide to form carboxylate anions and glycerine. |
| What is the opposite of glycolysis? | Gluconeogenesis |
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spflederer
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