Term
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Definition
-Educate but not advise
-Promote support groups |
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Definition
incest
could indicate certain chance for certain diseases |
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Term
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Definition
noncoding region
brings two parts together |
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Term
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Definition
physical position/location on chromosome |
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Term
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Definition
Phospahte molecule
Pentose Sugar
Nitrogen bases
Nucleotides
Double helix |
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Term
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Definition
Organized structure of DNA and protiens
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Term
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Definition
-middle of the chromosome
-where sister chromatids come together |
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Term
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Definition
one of 2 or more forms of a gene |
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Term
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Definition
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Term
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Definition
physical position/location on the chromosome |
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Term
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Definition
-difference in people that has no repurcussions
-ex. hair color, eye color |
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Term
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Definition
changes that have repurcussions |
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Term
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Definition
-Process of DNA becoming mRNA
-aka the unwinding of DNA |
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Term
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Definition
mRNA and tRNA bring in the matching amino acids making the new strand of DNA |
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Term
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Definition
separation of chromosome in cell into two identical sets of nuclei |
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Term
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Definition
-Cell division ending in sperm and eggs
-The end products are half the size which allows for the combination of both parents genes |
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Term
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Definition
-Occurs when chromosomes don't divide when they are suppose to
-Occurs in "big" chromosomes like 1,2,3,4,5,6
-Usually ends in a miscarriage
-Ex. Downs syndrome, Turners syndrome, Mosiac |
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Term
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Definition
-Recombinations
-2 homologous chromosomes come together
-Doesn't affect a person directly but it would affect their children |
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Term
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Definition
Deletion
Inversion
Duplication
Insertion |
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Term
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Definition
One less nitrogen base
ex. DiGeorge Syndrome |
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Term
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Definition
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Term
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Definition
extra nitrogen base
15q duplication |
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Term
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Definition
Addition of nitrogen base from another chromsome |
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Term
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Definition
Study of inheritable changes in phenotype
-code is not actually affected
ex. Methylation, Acetlylation, Imprinting |
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Term
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Definition
-CH3 attaches to chromosome and will silence the gene so that it will not be expressed
-Ex. Prader Willies Syndrome Angelman syndrom |
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Term
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Definition
Some chromosomes are imprinted with which parent they received it from
-If you have 2 genes from the same parent it can cause problems |
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Term
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Definition
1.Diagnosis
2. Predictive Testing
3. Carrier Testing
4. Prenatal Testing
5. Screening
6. Preimplantation |
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Term
Benefits to Genetic Testing |
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Definition
1. Clarify a diagnosis
2. Screening and reduction options
3. Figure out who else may be at risk
4. Reproductive decision making |
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Term
Issues with genetic testing |
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Definition
1. Cost
2. Insurance coverage
3. Testing minors
4. Psychological readiness |
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Term
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Definition
Picture of chromosomes
-The only ones that will appear different are sex chromsomes |
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Term
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Definition
A codon changes to a stop codon |
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Term
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Definition
Codon changes, coding for a different amino acid |
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Term
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Definition
One base changes but it still codes for the same amino acid |
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Term
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Definition
one or more bases is taken out/added changing the amino acid it codes for |
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Term
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Definition
inherited
single gene diseases |
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Term
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Definition
new mutation
singe gene with no family history |
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Term
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Definition
acquired
ex cancerous cells, mosaic |
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Term
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Definition
can affect both males and females |
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Term
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Definition
never skips a generation
only 1 chromosome needed to express
50% chance of passing it on to offspring |
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Term
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Definition
-dependent on partners status
-common with incest
-carrier usually doesn't know it till an offspring expresses
-need 2 chromosomes to express |
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Term
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Definition
-No male to male transmission but there is male to female
-Males are affected more than females
-ex. hemophilia |
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Term
phenotypic heterogenicity |
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Definition
same gene causes different conditions |
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Term
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Definition
same condition caused by many genes |
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Term
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Definition
what they have
code affected |
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Term
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Definition
what you see/what's expressed |
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Term
Multifactorial Inheritance |
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Definition
variations in traits caused by genetic and environmental/lifestyle factors |
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Term
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Definition
Percentage of individuals with a specific genotype who also expresses the expected phenotype
-Ex. Huntington's disease has 100% penetrance |
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