Term
| alterations in human genome.... |
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Definition
| -known to cause more than 4000 genetic disorders |
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Term
| an accurate genetic test can determine if.... |
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Definition
| -mutant allele is present, but does not always predict if a person will develop that disorder |
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Term
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Definition
-causes most cancers
-only present in some cells in the body |
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Term
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Definition
-causes dominant genetic disorders in a family pedigree
-will be present in all cells of body
-comes from persons parents |
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Term
| if only have a few cells from embryo... |
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Definition
-use direct test
-protiens differnt in differnt cells |
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Term
| direct identification by "looking" at the DNA |
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Definition
-all cells in bdoy have same DNA but not same phenotype
-direct testing best because cell might not have disorder |
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Term
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Definition
| -pictorial arranglement of a full set of human chromosomes |
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Term
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Definition
| -thin sized chip that has been spotted at fixed locations with thousands of single-stranded DNA fragments corresponding to various genes of interest |
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Term
| What is a chip used for in genetic testing and what do results from DNA chips tell you? |
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Definition
-results tell you what alleles are present
-identification of specific sequence |
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Term
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Definition
| -look in a cell for a specific piece of DNA |
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Term
| what do fish results look like and what does it tell you? |
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Definition
-results from fish is a glow in the dark picture
-spots tell ou what are in the genes |
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Term
| Direct identification types |
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Definition
-karyotype
-chip
-FISH
-sequecning |
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Term
| indirect identification by "looking at metabolites |
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Definition
| -anything other than DNA, RNA, or proteins--building blocks |
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Term
| indirect identification by "looking" at proteins |
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Definition
-enzyme assays (is the protein doing its job?)
-antibodies (is the protein there--may or may not be able to tell you if protein is doing job |
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Term
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Definition
| will help you catch new mutations |
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Term
| why have genetic test done |
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Definition
-see what child is predisposed to
-see if you are predisposed to something |
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Term
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Definition
-testing fetal cells
-amniocentesis and genetic tests |
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Term
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Definition
-testing blood samples from infant to detect disease-related abnormalities or deficiencies in gene products (indirect testing)
-blood sample from baby and genetic tests
-immediate intervention prevents phenotypes |
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Term
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Definition
-testing to identify people who carry disease-causing recessive genes that could be inhereted by their children
-DNA sample from individual and direct genetic tests |
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Term
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Definition
-testing to identify gene abnormalities that may make a person susceptible to certain disease or disordres (tyically direct)
-DNA sample plus genetic test
-useful for analysis of late-onset disorders |
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Term
| identification (DNA fingerprinting) |
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Definition
-testing to identify an indivudal using one or more genetic markers that identify unique characteristics (direct testing)
-used for criminals, identificaion, and paternity |
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Term
| preimplantation genetic diagnosos (PGD) |
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Definition
-testing to determine the genotype of an ambyro created by IVF
-procedue involves removing a cell from the early embryo for testing
-could be used to select desireable traits |
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Term
| do positive results mean you will get sick? |
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Definition
| -some mutations detected by positive test may never lead to disease |
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Term
| do negative results mean you do not have disorder |
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Definition
-some disease-causing mutations may escape detection
-can acquire disease over time |
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Term
| who has access to your genetic information? |
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Definition
-law prohibits insurance companies and employers from discriminating against anyone based on knowledge of gene info
-family should know so they can get tests done |
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