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Location of a gene on a chromosome |
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Occurs mostly in Fungi and Protists
They can join together to form diploid cells |
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Seen in animals
Parents make haploid gametes and are stored in reproductive organs.
They reunite through sex and the DNA combines forming another organism. |
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Somatic cells make up most of our body |
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How many chromosomes do somatic cells have |
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Homologous Chromosomes are also called |
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How masny pairs of Autosomes are there? |
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What is the X/Y makeup of a female? |
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What is the X/Y makeup of a male? |
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In a males "XY" Chromosomes are called |
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These are sex cells (male-sperm/female-egg)
They are haploid
Egg and Sperm fertilize to form a diploid cell called a zygote.
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What does a zygote undergo to form a new organism |
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A lot like MITOSIS.
There are 2 sets of division leaving you with 4 exact cells.
Occurs in the gonads.
The S phase doubles the # of chromosomes.
Males produce 4 sperm and females produce 1 egg.
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3 Major differences between
MITOSIS AND MEIOSIS |
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Crossover
Chromosome PAIRS seperate in Anaphase I
Sister chromatids seperate in Anaphase II |
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Genetic swapping between homologous chromosomes.
This occurs to create variation
SYNAPSIS- Chromosomes intertwine together
Tetrad-4 chromosomes twist together
Chiasmata- Chromosomes physically overlap |
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An inheritable physical feature |
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Requires 2 allels (one from each parent)
Variation of character |
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Different version of a gene
2 allels are needed for 1 trait
Dominant allels have capital letters
Recessive allels have lower letters |
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Only have one type of allels for a certain trait (BB or bb)
Otherwise known as Homozygous allels. |
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Creates an organism with 2 types of allels. (Bb)
Otherwise known as Heterozygous allels. |
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Refers to a physical trait that can be seen.
(Blood Type or eye color) |
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Organisms genetic makeup for a certain trait.
(BB, Bb, bb)
If genotype is unknown, perform a testcross to find it.
Test cross must be done with a homologous recessive allel so that the unknown will not have genetic makeup covered. |
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A chart that shows the possible genotypic outcome based on the parents genotypes.
MONOhybrid=1 trait=4 squares=4^1
DIhybrid=2 traits=16 squares=4^2
TRIhybrid=3 traits=64 squares=4^3 |
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Mendels law of Segregation |
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Definition
The genes on chromosomes can move independently of one another.
This is supported by what is happening in crossover during Anaphase I of Meiosis. |
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Mendels law of independant assortment |
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This states that the chromosomes move independantly of one another.
Occurs in Anaphase 1 and 2
And in Mitosis |
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Chance that certain outcome will actually happen.
Probability ranges from 0 and 1.00 (0%-100%)
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This is where one phenotype does not dominate and both are seen in a blended version. |
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The dominant allel has total control over the recessive allel. Only 1 is seen. |
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Both allels are seen, but they ARE NOT BLENDED.
They are equally present in terms of phenotype. |
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There are MULTIPLE versions of the same basic allel.
Variations of Blood Types for ex. |
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This is where 1 gene affects multiple phenotypes. |
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A gene at 1 LOCUS affects a gene at a 2nd LOCUS
Hair is a good example. color, texture, thickness |
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MANY different degrees of phenotypic outcomes.
This is due to Quantitative Characters (How many allels you recieved from your parents)
Skin Color for ex. |
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Many environmental factors are affecting the phenotypic display of genes in that organism. |
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Family history of trait occurance in chart form. Affected individuals are SHADED in the chart.
These help tell the past occurance and can be helpful when trying to predict the future occurance through mating. |
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NO INFORMATION inherited on both chromosomes.
EXTREMELY HARMFUL
ONLY OCCUR in the homologous recessive state.
Nothing is there to dominate the disorder.
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Heterozygous in genotype
They have a 50% chance of passing the trait along ( If the sperm and egg both are homozygous recessive then the trait will pass on to the opffspring) |
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Most common lethal disease
1 in 2500 births
In caucasions, 1 in 25 is a carrier.
Creates faulty Chloride ion (Cl-) protein carrier on cell membranes in the lungs.
This causes fluid to build up in the lung tissues.
People drown in their own fluid
There is NO CURE |
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Creates a non-functional lysosome in brain cells.
Brain cells need a lot of energy to function properly. Therefore the feed off on lipids primarily.
Lysosomes break down lipids, but the lysosomes in this disorder are missing an enzyme that helps do this, so the lysosomes fill of with lipids then die.
Affects Jews a lot bc of marrying within the culture
Children affected die a painful death usually by the age of 5 |
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Most common within Black population.
Affects 1 in 400 births
The 6th amino acid is changed (Glutein-->Valine) in the PRIMARY sequence of one of the proteins needed to make red blood cells.(666 is BAD; changing the 6th amino acid is BAD) |
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Are resistant to Malaria bc of the 1 recessive allel but they mostly have normal red blood cells for carrying O.
This is also refered to as Heterozygous Advantage
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ONLY NEED 1 ALLEL FOR THE DISEASE TO BE EXPRESSED
If the individual in homozygous dominant, then the disease in normally fatal |
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Genetic Dwarfism
Affects 1 in 10000 births |
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Affects 1 in 10000 births
Not apparent until the 40s and 50s
The dominant gene has a locus on tip of autosome 4
Family history is important in the diagnosis of this disorder.
Almost always fatal |
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Heart Disease
Diabetes
Cancer
Alchoholism |
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Individuals who run PEDIGREES using family history data to look at potential outcomes and to give advice on whether the parent should attempt at concieving a child.
They can use Amniocentesis, Chorionic Villus Sampling, Ultrasound, Fetoscopy, and Newborn Screening for conformation that the offspring does/doesnt have disorders. |
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Refers to genes found on the autosomes. These are usually inherited as a LINKED unit bc they are found on the same chromosome. |
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Can occur at crossover in Prophase 1 or when chromosomes seperate.
Parental types look like their parents
Recombinant types look like a combination of both parents. |
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Locate genes loci base on banding strain pattern. |
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Genes found on the sex chromosomes. 95% refers to the X (seX linked)
Sex chromosomes undergo very little crossover in Prophase 1 of Meiosis.
Sex of organism will be determined at conception.
Everyone is female at first |
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Types of: Patterns of Inheritance and Sex Linked GENETIC disorders. |
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COLOR BLINDNESS
MUSCULAR DYSTROPHY
HEMOPHILIA
Due to males having X and Y, if they get a recessive gene with a disease, they will not have a dominant gene to cover it up, resulting in more males with Inheritance/SexLinked Diseases |
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Chromosomal Number: failure to seperate during anaphase.
Individual Chromosome Structure: occur bc of faulty crossover. |
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refers to an organism possessing the traits of a particular genetic disorder.
Downs: Extra 21 autosome
Klinefelters: XXY both penis and vagina
Turners: XO underdeveloped vagina
Cri du Chat: part of 5 is deleted. windpipe
Leukemia: translocation between 9 and 22. cancerous white blood cells.
Fragile X: heavy methylation on X. mental |
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Erasing your parents DNA and creating your own.
Too much methylation=doesnt look like parents
not a lot= similar |
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DNA located outside of the nucleus. |
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The process of making a complete copy of an entire length of DNA.
Occurs during the S phase. of the cell cycle.
It is easy to do for cells, bc both sides are complementary.
A=T G=C
EXTREMELY quick |
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Definition
Specific nucleotide sequences in the DNA strands that act as staring points.
The enzyme helicase unwinds the DNA double helix to create a Replication Bubble.
The ends of the bubbles are called replication forks.
Work is happening on both sides of the forks and bubbles.
Many bubbles can be on the same DNA strand. |
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DNA Replication Elongation |
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Definition
Elongation of the new DNA complimentary side will require the enzyme DNA Polymerase III to add the new nucleotides to the new DNA complementary side. It also acts as a proof reader checking for errors. |
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brought to the enzyme from the cytoplasm of a cell.
A nucleoside has 3 phosphates to supply the bonding process with energy.
The Nucleoside will lose 2 phosphates in the bonding process.Loss of phosphates make it a nucleotide.
This saves ATP for other cellular processes. |
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DNA is always read and made 5'-->3' |
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Definition
The 5' carbon of the sugar has a phosphate attached to it
The 1' carbon of the sugar has the nitrogen base attached to it.
The 3' carbon of the sugar has an open bond |
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Single-stranded binding protein |
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keeps the 2 sides appart and stable. |
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Lead strand of the replication fork (2 forks going in opposite directions) |
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The strand runs in a 5' to 3' direction as it opens.
In order to start adding nucleosides, attach RNA PRIMER using PRIMASE AND GO!
Lead strands on both sides of the replication bubble are located diagonally from each other. This is bc the 2 DNA strands are anti parallel. |
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THIS SIDE IS NOT RUNNING 5'TO3' therefore it laggs.
This fork has to wait for a long segment of DNA before adding a primer.
Once helicase opens and the RNA primer attaches and then DNA Polymerase III works backwars forming Okazaki fragment.
The O fragments are stiched together using Ligase.
They are located diagonally also. |
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used when the wrong nucleotide is added to the sequence. DNA Polymerace will reverse a spot, removing the wrong nucleotide.
NUCLEOTIDE ESISION REPAIR
1.Nuclease cuts around so they can be removed
2. DNA replaces
3. Ligase stiches together. |
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Are repeated nucleotide sequences found at the end of each chromosomes used for RNA primers to attach and start replication w/o bubble.
Number of telomeres depends on cell type.
Having telomeres protects from erosion.
APOPTOSIS is programmed cell death |
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This is the enzyme that replaces telomeres during fatal developement. After the fetus is developed this enzyme shuts off.The DNA segment that is responsible for providing the blueprint will become heavily methylated.
Tumors can be formed when the enzyme is turned back on. |
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