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Genetics
Exam 3
61
Biology
Undergraduate 2
10/29/2007

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Term
Protein Synthesis
Definition

The assembling of a protein into a specific sequence of amino acids.

Term
Transcription
Definition
Uses DNA to make RNA
Occurs in the nucleus
Term
Translation
Definition

Uses RNA to make protein
Occurs in the cytoplasm

Term
Base Substitutions
Definition

One nitrogenous base substitutes for another.

Term
Missense Mutation
Definition
A new amino acid is specified
Enzyme may work poorly or not at all
Term

Silent Mutation

Definition
A base substitution in which there is not change in the specified amino acid.
No change in protein.
Term
Nonsense Mutation
Definition
Premature appearance of stop codon
Partial protein
Term
Frame Shift Mutation
Definition
Add or delete a nucleotide in DNA resulting in a shift in the reading frame
Sequence of amino acids is changed
Protein is non-functional
Term

Induced Mutation

Definition
Caused by a mutagen
Term
Mutagen
Definition
A substance that causes a DNA base change
For example-
Chemicals or radiation
Natural exposure to mutagens- sunlight, radon, cosmic rays
X-Ray
Term
Carcinogenesis
Definition
The development of cancer
Term
Initiation
Definition
Occurence of mutation in proto-oncogenes, tumor suppressor genes, or genes affecting DNA repair
Term
Promotion
Definition
Anything that causes expression of the recessive allele
Wher cancer develops
Term
Progression
Definition
Metastasis- spread of cancer from one part of the body to another
Term
Carcinogen
Definition
Something known to cause cancer in a lab animal
Difficult and expensive
Most are mutagens
Term

Hemoglobin

Definition
Responsible for carrying oxygen molecules from lungs to cell
Term
Osteogenesis Imperfecta Type I
Definition
Inactivation of one of the alleles
Reduces collagen by 50%
Easily broken bones
Term
Biotechnology
Definition

The use or alteration of cells or biological molecules for specific applications

Term
Genetic Engineering
Definition
Type of biotechnology that manipulates genetic material in cells
Term
Messenger RNA (mRNA)
Definition
carries message from DNA to ribosomes
each 3 bases is called a codon
Term
Ribosomal RNA (rRNA)
Definition
combines with protein to form a ribosome
Term
Transfer RNA (tRNA)
Definition
actually attaches to an amino acid and moves it into its proper location
Term
Properties of the Genetic Code
Definition
  1. triplet code-3 consecutive nitrogenous bases specify an amino acid
  2. Non-ambiguous-each codon specifies a specific amino acid
  3. Degenerative(redundant)-an amino acid may have more than one codon
  4. Has stop & start signals
  5. Universal-all organisms use the same mRNA codons to specify the same amino acids
Term
Structural Genes
Definition
transcribed into mRNA and translated into proteins
Term
Transfer RNA Genes
Definition
transcribed into tRNA molecules than folded into the clover shape (not translated)
Term
Ribosomal RNA Genes
Definition
transcribed into very long rRNA molecules which become incorporated into the ribosomes (not translated)
Term

Gene

Definition
an interval of DNA used during transcription to make one RNA molecule
Term
Telomeres
Definition
tips of double helix
"biological clocks"
consist of repeated sequences of 6 base pairs
Term
Telomerase
Definition
can add copies of repeated sequence into the telomeres
*only active in germ cells (eggs & sperm) 
Term
Mutation
Definition
any heritable change in DNA
Term

2 Ways to Inherit Cells

Definition
  1. From parents-every cell in offspring carries mutation it present in egg or sperm
  2. Mitosis-if changes in a cell (mutation) it is inherited by daughter cells
Term

Sickle Cell Disease

Definition
  • single based substitution mutation
  • cells clump and obstruct blood vessels
  • loss of function
  • inherited
Term
Insulin
Definition
Protein with 51 amino acids
Before 1982 cow insulin was used-removed pancreas of dead cows, usually worked OK but 1/20 were allergic and it was very expensive
Term

Recombinant DNA Technology

Definition
DNA for making insulin in humns is inserted into bacteria
Big vats of bacteria (E.Coli) produce insulin called "humulin"
Can be purchased in drug stores
Term
Indigo
Definition
Blue dye
Genetically Modified Organism
Origianlly from plants & mollusks
E.Coli-makes blue dye
Term
Plasmid
Definition

Circular DNA
Insert DNA into a plasmid
Insert plasmid into cells of target organism
Produces a Genetically Modified Organism (GMO)
Example: RoundUp Ready Corn/Beans

Term
Roundup
Definition
Herbicide
Corn & beans with genes inserted to make them resistant to Roundup, the corn/beans survive and weeds dies
Reduces cost
Increases yield
Term

Monsanto

Definition
Produces Roundup-Big Business
Can't sell it to Europeans- they have objections to consuming GMO's
Concern of GMO's escaping into natural environment
Term
Potential Risks of GMO's
Definition
  • Movement of transgenes to other species
  • Inability to predict long term consequences of introducing GMO's into the environment
Term
Benefits and Problems With GMO's
Definition
  • Added vitamins and less fat
  • Nutritional value
  • Ex. rice with added vitamin A and iron
  • According to the World Health Organization vitamin A prevents blindness
  • Problem-eating DNA-average meal contains 93,000 miles of DNA, labeling food products
Term
Transgenic Mice
Definition
  • GMO's
  • Gene targeting: creating genes in mice that produce human-like diseases
  • Used in research to study human diseases
  • Uses: find causes, drug testing, gene therapy testing, AIDS research
Term
Gene Therapy
Definition
  • Alterting genes to treat an inherited disorder
  • Not easy
  • 1st therapy focused on well-studied disease-later advanced to more common diseases
  • 3 Methods of Delivery-1. Ex Vivo 2. In Situ 3. In Vivo

Term
Ex Vivo
Definition
Gene therapy outside the body
Alters DNA in cells outside the body and is than infused in the body
Term
In situ
Definition
The healthy gene inside a DNA vector (deactivated virus) is injected into a very localized and accessible body part.
Skin cancer
Term
In viro
Definition

The vector introduced directly into the body
Infused in blood stream or injected into the body
Canavan Disease

Term

Goal of the Human Genome Project

Definition
Identify all the 30,000 genes in the human DNA, determine the sequence of the 3 billion base pairs in the human DNA
Term

RFLP Analysis

Definition

Restriction Fragment Length Polymorphism
DNA Fingerprinting

Term
Human DNA
Definition
99.9% identical
Term
Sex Chromosomes
Definition
X and Y
Autosomes- other 44
Term

Human female gametes contain only one kind of...

Definition

Sex Chromosome (X)

Term

Human male gametes contain either

Definition
X or Y sex chromosomes
Term
SRY Gene
Definition
Sex determining region of the Y chromosome
Term
Indifferent gonads
Definition

Becomes female, unless there is a functioning SRY gene

Term
Hermaphodite
Definition
Individual with both sexes
Term
Aneuploidy
Definition
Having an abnormal number of chromosomes
Term
Pseudo Hermaphoditism
Definition
SRY is functioning
Testes usually present
Female internal structures disappear
Block in testosterone synthesis
No male structure (penis)
Child appears to be female
At puberty, adrenal glands start functioning
Masculization occurs
Term
Triple X Syndrome (XXX)
Definition
Female
2N+1=47 (2 barr bodies)
1/1000 females
May be fertile and have normal pregnancy
Often tall and thin
May have internal abnormalities
Some may appear "normal"
Not mentally retarded, but often have reduction in mental abilities compared to siblings
Term
XO Turner Syndrome
Definition
Female
2N-1=45 (0 Barr Bodies)
99% of fetuses die
1/2000 females born
Wide set nipples
Slight webbing
Short stature
Coarse facial features
Slow or little sexual development at puberty
Poor development of ovaries (sterile)
Symptoms can be treated with hormonal therapy
Only aneuploid not related to mother's age
Term
XXY Klinefelter Syndrome
Definition
Male
2N+1=47 (1 Barr body)
1/500 males affected
underdeveloped testes
some breast development
sparse facial hair
long arms and legs
sometimes slow to learn
treated with testosterone
some have no symptoms, except sterility
Term
XYY Extra Y Syndrome
Definition
Male
2N+1=47
1/1000
Apparently normal
Sometimes-very tall, acne, speech and reading problems
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