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Chemistry ch15-genetic material and disease
N/A
56
Chemistry
Undergraduate 2
12/11/2011

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Term
diabetes(mellitus)
Definition
condition in which blood glucose levels are high and often uncontrolled due to insufficient insulin production or availability
Term
insulin
Definition
protein normally produced in body
Term
type 2 diabetes
Definition
accompanies obesity
Term
DNA and deoxyribonucleic acid
Definition
primary means by which info about the structure and function of human body is stored, polymer made up of nucleic acis, building blocks 
Term
genes
Definition
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
Term
RNA or ribonucleic acid
Definition
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)
Term
genome
Definition
total complement of gene, just under 3 bill nucleic-acid building-blocks
Term
nucleic acid
Definition
macromolecule or bio-polymer made up of a large number of nucleotides
Term
each nucleotide
Definition
consists of 3 proteins- phosphate group, sugar (ribose or deoxyribose), and heterocyclic base
Term
inorganic phosphate groups
Definition
connect one sugar to another via hyroxyl (-OH) groups of cyclic sugars
Term
heterocyclic base
Definition
attached via nitrogen on its structure replacing the OH at C-1 of sugar
Term
phosohate and sugar= backbone of polymer
Definition
bases are the variable portions
Term
polymer DNA bases and sugar
Definition
adenine, guanine,cytosine,thymine and deoxyribose
Term
bio-polymer RNA bases and sugar
Definition
adanine, guanine, cytosine, uracil and ribose
Term
DNA replication
Definition
portion of double helix unwinds from bottom, enzyme match nucleoside w/ complement, resulting in 2 identical copies
Term
thymine
Definition
has an additional methyl group
Term
single-stranded nucleic acid, most common form of RNA
Definition
serves as template for protein synthesis usind the order of its bases
Term
20 naturally occurring amino acids and four bases
Definition
it takes multiple bases to code for a single amino acid
Term
codon
Definition
3-base sequence in DNA that specifies the appropriate amino acid that should appear in sequence w/in protein, 64 possible
Term

 start- aug

stop- uag,uga, uaa

Definition
3 base codons start and stop signals to enzyme systems that "read" the nucleic acid sequences
Term
DNA provides the template via an RNA copy
Definition
in turn, RNA condons are used to select the order of amino acids that are assembled into protiens
Term
diseases characterized by chemical origin
Definition
anomaly of a gene or chrom, missing hormone, missing/damaged protein or enzyme, or one amino acid swapped for another in a protien
Term
down syndrome
Definition

chemical basis: additional chrom 21 (95%of cases) or portion in wrong location, have 47 not 46 chrom

 

Process affected: birth defects, revere retardation

Term
cystic fibrosis
Definition

chemical basis: missing amino acid phenylalanine in protien

 

process affected:secretions in gastrointestinal and respiratory glands

Term
duchenne muscular dystrophy
Definition

chemical basis: missing protein- dystrophin

 

process affected:muscle fiber production

Term
hemophilia
Definition

chemical basis: missing proteins- factor VII, factor IX

 

process affected: enables and controls blood clotting process

Term
sickle-cell anemia
Definition

chemical basis:amino acid valine in place glutamic acid

 

process affected: oxygen carrying ability of hemoglobin

Term

thyroid hormone deficiency

(hypothyroidism)

Definition

chemical basis: missing hormone-thyroxin

 

process affected: growth, mental development

Term

Adrenal Hormone Deficiency (Congenital Adrenal Hyperplasia)

Definition

chemical basis: missing hormones: hydrocortisone and aldosterone


process affected: stress response; Na

+ and K+

levels & blood pressure maintenance

Term

Fatty Acid Metabolism Disorders (MCADD)

Definition

chemical basis: missing enzymes

 

process affected: conversion of fatty acids to 2 carbon portions and energy

Term

Carbohydrate Metabolism Disorders (Galactosemia)

Definition

chemical basis: missing enzyme

 

process affected: convert monosaccharide galactose to glucose

Term
carbohydrate(lactose) intolerance
Definition

chemical basis: missin enzyme-lactase

 

process affected: converts lactose to monosaccharides

Term
person w/ downs
Definition
severely retarded, small head,short, eyes slanted up, epicanthal folds of inner eyes, 40% have congenital <3 defects, cant be treated
Term
chances of getting downs
Definition
1 out of 800, but if mom less than 20 1 out of 2000, if older than 40 1 out of 40
Term
amniocentesis
Definition
prenatal test, a few cells surrounding fetus are removed in order to examine the chrom
Term
cystic fibrosis
Definition
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
Term
chronic obstructive pulmonary disease(copd)
Definition

mucus to become excessive and very viscous in the respiratory system- a limitation of airflow in the airway that is not fully reversible. 

Term
 chance of cis fib
Definition
most common life-shortening gentetic disease in white- 1 out of 3,300 births, survival median age- 35
Term
chance for mus dys
Definition
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
Term
chances for hemophillia
Definition
80% type a( no factor VII), carried on x chrom more males, 5% of necessary factor VIII or IX
Term
sickle cell anemia
Definition

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

 

 

 

Term

 variable number tandem repeats (VNTR) 

Definition
DNA profiling uses repetitive sequences that are very similar between closely related people but not at all among unrelated individuals.
Term
formation of recombinant DNA- 5 steps
Definition
isolation-
Term
cis fibrosis
Definition
mutation because of  no amino acid- phenylalanine(felions have cis fib hehe jayne!)
Term
md mutation
Definition
no dystrophin, protein in muscle cell membranes
Term
iodine deficiency
Definition
most common cause of congenital hypothyroidism, effects mental capacity
Term
hormone from adrenal- aldosterone
Definition

stimulates sodium (and therefore, water) retention and potassium excretion and is important in blood pressure maintenance

Term
hormone from adrenal- hydrocortisone
Definition

 associated with the physical effects of the stress response within the body,

Term
complete hydroxylase deficiency
Definition
70% of cases, leads to salt wasting, low sodium, high potassium, increased renin- affects blood pressure
Term
deficient enzyeme- hydroxylase
Definition
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
Term
amino acid metabolism disorder
Definition
no enzyme phenylalanine hrdroxylase to make tyrosine- phenyl. amino acid accumulates- affect brain, impair manner in which neurons are fromed and protected
Term
phenylketonuria (PKU)- if untreated= severe mental retardation, hyperactivity, gait changes, and psychosis- distorted reality
Definition
excess phenylalanine is metabolized to phenylketones
Term
Medium-chain acyl dehydrogenase deficiency or MCADD 
Definition

is the most common defect in the beta-oxidation cycle

Term
Galactosemia
Definition

 is a carbohydrate-metabolism disorder in which there is a deficiency in enzymes that convert galactose to glucose 

(galac+glu=lactose)

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