Gen Chem II Final
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| What is the chemical basis for Down Syndrome? | Extra Chromosome-21 exists in about 95% of cases
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| What are the Traits of Down Syndrome? | Possible severe mental retardation, a small head, short stature, epicanthal folds, congenital heart defects
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| What is the incidence of Down Syndrome (average)? | 1 in every 800 births
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| What is the incidence of Down Syndrome for moms less than 20? | 1 in every 2,000 births
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| What is the incidence of Down Syndrome for moms over 40? | 1 in every 40 births
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| 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
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| Can Down Syndrome be treated? | No
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| 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)
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| 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
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| Chronic Obstructive Pulmonary Disease (COPD) | Limitation of airflow in the airway that isn't fully reversible, followed by infection, inflammation, and progressive decline.
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| What is the incidence rate of Cystic Fibrosis? | 1 in every 3,300 births
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| What is the most common life-shortening genetic disease in the white population? | Cystic Fibrosis
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| What is the prognosis (median survival rate) of Cystic Fibrosis? | age 35
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| 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.
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| What kind of disease is DMD? | Sex-linked
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| What are the traits of Duchenne Muscular Dystrophy? | Skeletal muscle weakness, defects in muscle proteins, muscle fiber degeneration.
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| 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
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| What is the chemical basis of Hemophilia? | Missing proteins: Factor VIII, Factor IX.
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| Do more people have Hemophilia A or B? | Hemophilia A
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| What are the traits of Hemophilia? | Uncontrolled bleeding due to the inability of blood to clot
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| What is coagulation? | The process to stop blood loss from a damaged vessel
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| What is the incidence of Hemophilia? | 1 in every 7,500 live male births
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| 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)
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| 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.
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| 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
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| How is sickle-cell anemia obtained? | Inherited homozygous trait
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| Is there a treatment for Sickle-Cell anemia? | No effective drug
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| Sickle-cell anemia makes you able to survive what other disease? | Malaria
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| What is the chemical basis of Thyroid Hormone Deficiency? | Missing hormone-thyroxine
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| What is the main trait of Thyroid Hormone Deficiency? | Causes cretinism (severely stunted physical and mental growth) in kids
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| What is the number 1 cause of mental deficiency worldwide? | Thyroid Hormone Deficiency
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| What is the treatment for Thyroid Hormone Deficiency? | Administration of thyroxine, hormone that regulates metabolism
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| What is hydrocortisone/cortisol? | Associated with the physical effects of the stress response within the body
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| What is Aldosterone? | Stimulates sodium and water retention, as well as potassium excretion
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| 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
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| What is the prognosis of CAH? | Most people with CAH can lead normal lives with proper treatment
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| 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.
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| 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.
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| How is PKU obtained? | It's autosomal recessive
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| What are the traits of PKU? | Severe mental retardation, extreme hyperactivity, gait changes, psychosis
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| What is the treatment of PKU? | Lifelong restriction of phenylalanine
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| What is the chemical basis of Tyrosinemia? | Accumulation of tyronsine and lower levels of neurotransmitter's such as dopamine, norepinephrine, and epinephrine.
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| What are the symptoms of tyrosinemia? | Failure to gain weight and grow at expected rate, hematomegaly (enlarged liver), yellowing of the skin and eyes.
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| ______________ are the preferred energy source for the heart muscles, skeletal muslces in exertion, and for during fasting. | Fatty acids
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| Fat metabolism begins by the ____________ of the triglycerides into fatty acids and glycerol. | Hydrolysis
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| 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.
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| What is the most common defect in the beta-oxydation cycle? | MCADD
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| What is the treatment for MCADD? | IV glucose, low-fat, high-CHO diet
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| Glycogen is..... | form of glucose that is used for storage in the liver and the muscles
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| Glycogen storage diseases are caused by..... | enzyme deficiencies in either glycogen synthesis or breakdown.
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| What is the chemical basis of galactosemia? | Deficiency of the enzyme that can convert galactose to glucose
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| Galactose is an __________ of glucose. | Isomer
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| What are the symptoms of galactosemia? | Liver and kidney problems, learning deficits, cataracts
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| What is the treatment for galactosemia? | Dietary elimination of galactose
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| What is the chemical basis for Lactase Deficiency? | Inability to digest certain CHO's due to the lack of intestinal enzymes
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| What occurs in Lactase Deficiency? | Undigested disaccharides attract water and electrolytes in the gut, producing watery diarrhea.
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| What percentage of the world's population cannot digest lactose? | 75% (More common in Asia, Africa, Native Americans, Mediterraneans).
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| Enantiomers must have a(n) ____________. | Chiral Center
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| What kinds of glycosidic bonds to starch and glycogen have? | Alpha-1,4 glycoside bonds
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| What kind of structure does glycogen have? | Branched structure
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| What kinds of glycosidic bonds does cellulose have? | Beta-1,4
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| Cholesterol has what kind of structure? | Steroid Structure
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| Amino acids form peptide bonds to make peptides via what kind of reaction? | Condensation reactions
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| As the number of bonds to oxygen increases, the energy produced during combustion of the molecule _____________. | Decreases
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| The fuels derived from ________ have the highest energy content per carbon atom. | Alkanes
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| As we go from methane to some of the heavier alkanes, the heat of combustion ________. | Increases
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| What is a triglyceride made up of? | 3 fatty acids and a glycerine
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| Oxygen has to be attached to a(n) _________ to be an acid. | Carbon
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| 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.
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| Only _____ unsaturated fatty acids commonly occur in nature. | Cis
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| Acids = compounds to (lose/gain) H+. | Lose
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| Are acids prognated or deprognated? | Deprognated
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| Carboxylic acids in the protonated or acidic form are water soluble if there are how many carbons atoms in the structure? | 5 or fewer
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| What is the relative acidity of these three compounds: alcohol, carboxylic acid, phenol. | Carboxylic acid > phenol > alcohol
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| Fatty acids in triglycerides can be converted into.... | Bio-diesel fuel
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| 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.
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| Condensation of Carboxylic Acids: | Carboxylic Acid + Alcohol --> ester + water
Carboxylic Acid + Amine --> amide + water
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| Condensation to make triglycerides: | 3 fatty acids + glycerine --> triglyceride + water
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| What's the reverse of condensation? | Hydrolysis
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| Hydrolysis of esters: | Ester + OH- + water --> carboxylate + alcohol
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| What kind of reaction is saponification? | Hydrolysis
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| What is saponification? | The reaction of a triglyceride with aqueous hydroxide to form carboxylate anions and glycerine.
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| What is the opposite of glycolysis? | Gluconeogenesis
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