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Gen Chem II Final

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
Created by: spflederer



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