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Genetic Variation
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28
Biology
9th Grade
02/08/2011

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Term
What is the negative effect of Mutation?
Definition
Mutations cause disease and disorder in humans and many other species. It restricts what you can do in life.
Term
What is different because of Mutation?
Definition
The DNA sequence.
Term
Sickle-Cell Anemia
Definition
A serious disorder where the body makes crescent shaped red blood cells that tend to clump and get stuck in blood vessels.
-People with this disease are born with 2 sickle-cell genes (one from each parent).
Term
Cystic Fibrosis
Definition
An inheritted disease that causes think, stick mucus build up in the lungs and digestive tract.
-Causes lung infections that can kill you.
-Must have 2 defective genes.
Term
Phenylketonuria
Definition
A rare condition in which a baby is born without teh ability to properly break down and amino acid called phenylalanine. ->Found in foods that contain protein.
- harmful to the nervous system and causes brain damage.
Term
What is a karyotype?
Definition
The appearance of the chromosomal makeup of a comatic cell in an individual.
(Picture of a persons chromosomes)
Term
Karyotype of Down's syndrome
Definition
A chromosome condition caused by the presence of all or part of an extra 21st chromosome.
Term
Symptoms of Down's Syndrome
Definition
Causes delays in the way a child developes mentally and physically.
-flat facial profile, slanted eyes, small ears, low muscle tone, grows slower
Term
Karyotype of Turner's Syndrome
Definition
Girls born with only one X chromosome, or missing part of an X chromosome.
Term
Symptoms of Turner's Syndrome
Definition
-Short height, prevents ovaries from developing properly (If not treated, can leave the child infertile)
-Kidney problems, high blood pressure, overweight, hearing problems, and diabetes.
Term
Karyotype of Klinefelter's Syndrome
Definition
When males have an extrea X chromosome (XXY)
Term
Symptoms of Klinefelter's Syndrome
Definition
Can affect physical developement, language developement, and social developement.
Term
What is deletion mutation?
Definition
When a base is removed from the DNA sequence.
EX: ABC.EFG --> AC.EFG
Term
What is insertion mutation?
Definition
When one base is inderted to a DNA sequence.
EX: ABCD.EFG --> ABCD.EFGH
Term
What is substitution mutation?
Definition
When one base is changed to another.
EX: ABC.EDF --> ABZ.EDF
Term
What are Jumping Genes? (Transposons)
Definition
Sequences of DNA that can move around to different positions within the genome of a single cell.
EX: AB.C'DE'FG --> A'DE'B.CFG
Term
What are some environmental hazards that can cause mutations?
Definition
1) Solar Radiation
2) Nuclear Radiation
3) Solvents (disolve things)
4) Acids and Bases
Term
What is Meiosis? (Starts and ends with?)
Definition
2 cell divisions that produce reproductive cells.
STARTS:One parent cell (diploid)
ENDS:Four daughter cells (haploid)
Term
Possible sources of Genetic Variation (5)
Definition
*1)Gene Shuffling (independent assortment)
2)Crossing over
*3)Mutations
4)Genetic Drift/Flow (immigration & Emmigration)
5)Epigenetic factors
Term
What is the Epigenome?
Definition
Chemical factors that can switch on and off in DNA
Term
Angelmans Syndrome
Definition
Jerky movement, no speech, always smiling
Term
Prader-Willi Syndrome
Definition
Floppy at birth, big appetite.
Term
Highest percentage of A allele found?
Definition
Australia
Term
Most of B allele found in?
Definition
Eurasia
Term
O allele found in?
Definition
Americas
Term
What are antigens?
Definition
Surface proteins thatcan act as cellular ID
Term
Autosomes
Definition
Chromosomes that are NOT sex chromosomes
Term
Cells often used for karyotyping?
Definition
White blood cells
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