Chemistry ch15-genetic material and disease – Flashcards
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Unlock answers| diabetes(mellitus) |
| condition in which blood glucose levels are high and often uncontrolled due to insufficient insulin production or availability |
| insulin |
| protein normally produced in body |
| type 2 diabetes |
| accompanies obesity |
| DNA and deoxyribonucleic acid |
| primary means by which info about the structure and function of human body is stored, polymer made up of nucleic acis, building blocks |
| genes |
| portion of DNA, carried in a linear form as chromosomes and direct production of all the molecules that form the structures of a cell, determine inherited characteristics that distinguish ppl |
| RNA or ribonucleic acid |
| transfer info from DNA (tRNA), programs protein synthesis (mRNA), and maintains structure of rinosomes (rRNA)(part of cell that amino acids are assembled to create protiens based on templates w/in genetic material) |
| genome |
| total complement of gene, just under 3 bill nucleic-acid building-blocks |
| nucleic acid |
| macromolecule or bio-polymer made up of a large number of nucleotides |
| each nucleotide |
| consists of 3 proteins- phosphate group, sugar (ribose or deoxyribose), and heterocyclic base |
| inorganic phosphate groups |
| connect one sugar to another via hyroxyl (-OH) groups of cyclic sugars |
| heterocyclic base |
| attached via nitrogen on its structure replacing the OH at C-1 of sugar |
| phosohate and sugar= backbone of polymer |
| bases are the variable portions |
| polymer DNA bases and sugar |
| adenine, guanine,cytosine,thymine and deoxyribose |
| bio-polymer RNA bases and sugar |
| adanine, guanine, cytosine, uracil and ribose |
| DNA replication |
| portion of double helix unwinds from bottom, enzyme match nucleoside w/ complement, resulting in 2 identical copies |
| thymine |
| has an additional methyl group |
| single-stranded nucleic acid, most common form of RNA |
| serves as template for protein synthesis usind the order of its bases |
| 20 naturally occurring amino acids and four bases |
| it takes multiple bases to code for a single amino acid |
| codon |
| 3-base sequence in DNA that specifies the appropriate amino acid that should appear in sequence w/in protein, 64 possible |
start- aug stop- uag,uga, uaa |
| 3 base codons start and stop signals to enzyme systems that "read" the nucleic acid sequences |
| DNA provides the template via an RNA copy |
| in turn, RNA condons are used to select the order of amino acids that are assembled into protiens |
| diseases characterized by chemical origin |
| anomaly of a gene or chrom, missing hormone, missing/damaged protein or enzyme, or one amino acid swapped for another in a protien |
| down syndrome |
chemical basis: additional chrom 21 (95%of cases) or portion in wrong location, have 47 not 46 chrom
Process affected: birth defects, revere retardation |
| cystic fibrosis |
chemical basis: missing amino acid phenylalanine in protien
process affected:secretions in gastrointestinal and respiratory glands |
| duchenne muscular dystrophy |
chemical basis: missing protein- dystrophin
process affected:muscle fiber production |
| hemophilia |
chemical basis: missing proteins- factor VII, factor IX
process affected: enables and controls blood clotting process |
| sickle-cell anemia |
chemical basis:amino acid valine in place glutamic acid
process affected: oxygen carrying ability of hemoglobin |
thyroid hormone deficiency (hypothyroidism) |
chemical basis: missing hormone-thyroxin
process affected: growth, mental development |
Adrenal Hormone Deficiency (Congenital Adrenal Hyperplasia) |
chemical basis: missing hormones: hydrocortisone and aldosterone process affected: stress response; Na + and K+ levels & blood pressure maintenance |
Fatty Acid Metabolism Disorders (MCADD) |
chemical basis: missing enzymes
process affected: conversion of fatty acids to 2 carbon portions and energy |
Carbohydrate Metabolism Disorders (Galactosemia) |
chemical basis: missing enzyme
process affected: convert monosaccharide galactose to glucose |
| carbohydrate(lactose) intolerance |
chemical basis: missin enzyme-lactase
process affected: converts lactose to monosaccharides |
| person w/ downs |
| severely retarded, small head,short, eyes slanted up, epicanthal folds of inner eyes, 40% have congenital <3 defects, cant be treated |
| chances of getting downs |
| 1 out of 800, but if mom less than 20 1 out of 2000, if older than 40 1 out of 40 |
| amniocentesis |
| prenatal test, a few cells surrounding fetus are removed in order to examine the chrom |
| cystic fibrosis |
| inherited disease, glands that secrete via duct no direclty into circulatory system, obstructions from mucus cause bad growth of digestive system, high electrolyte and salt levels in sweat, sweat= dehydration, circulatory faliure, formation of salt crystals |
| chronic obstructive pulmonary disease(copd) |
mucus to become excessive and very viscous in the respiratory system- a limitation of airflow in the airway that is not fully reversible. |
| chance of cis fib |
| most common life-shortening gentetic disease in white- 1 out of 3,300 births, survival median age- 35 |
| chance for mus dys |
| manifests b/t 2-3, wheelchair by age 12, and die respiratory complications by 20, sex linked x-chrom more likely in males, no treatment |
| chances for hemophillia |
| 80% type a( no factor VII), carried on x chrom more males, 5% of necessary factor VIII or IX |
| sickle cell anemia |
hemoglobin- protein carrys O in blood, 4 heme- O attaches to iron and makes red, 1 globin- 2 linked paire of polypep chains- overall protein structure and shape hemoglobin S- read blood cells break open life span greater than 50 yrs homozygous trait 2 identical allels .3% blacks, 8-13% are heterozygous and not anemic
|
variable number tandem repeats (VNTR) |
| DNA profiling uses repetitive sequences that are very similar between closely related people but not at all among unrelated individuals. |
| formation of recombinant DNA- 5 steps |
| isolation- |
| cis fibrosis |
| mutation because of no amino acid- phenylalanine(felions have cis fib hehe jayne!) |
| md mutation |
| no dystrophin, protein in muscle cell membranes |
| iodine deficiency |
| most common cause of congenital hypothyroidism, effects mental capacity |
| hormone from adrenal- aldosterone |
stimulates sodium (and therefore, water) retention and potassium excretion and is important in blood pressure maintenance |
| hormone from adrenal- hydrocortisone |
associated with the physical effects of the stress response within the body, |
| complete hydroxylase deficiency |
| 70% of cases, leads to salt wasting, low sodium, high potassium, increased renin- affects blood pressure |
| deficient enzyeme- hydroxylase |
| add OH to adrenal hormone precursors, absense cause precursors to accumulate and are shunted away- causes varying degrees of virilization on external genitals in female |
| amino acid metabolism disorder |
| no enzyme phenylalanine hrdroxylase to make tyrosine- phenyl. amino acid accumulates- affect brain, impair manner in which neurons are fromed and protected |
| phenylketonuria (PKU)- if untreated= severe mental retardation, hyperactivity, gait changes, and psychosis- distorted reality |
| excess phenylalanine is metabolized to phenylketones |
| Medium-chain acyl dehydrogenase deficiency or MCADD |
is the most common defect in the beta-oxidation cycle |
| Galactosemia |
is a carbohydrate-metabolism disorder in which there is a deficiency in enzymes that convert galactose to glucose (galac+glu=lactose) |
