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11 Cards in this Set
- Front
- Back
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5 goals of human genome project
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1) Improve diagnosis of disease
2) Detect genetic predispositions for a disease 3) Create drugs based on molecular information 4) Use gene therapy and control systems as drugs 5) Design "custom drugs" based on individual genetic profiles |
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Dopamine D2 receptor
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Gene for receptor is a candidate gene for a predisposition to alcoholism.
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Alcohol dehydrogenase
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Enzyme which converts alcohol to aldehyde. Certain ADH alleles give protection against FAS, others make one more susceptible.
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Why is linkage analysis used and what is its goal?
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It is used when direct DNA analysis is not possible because the gene in question is not known.
Goal is to find the rough location of a gene to other genetic markers with known locations. |
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catecho-o-methyltransferase
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(COMT) crucial role in metabolism of dopamine.
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3 Impairments of autism and when are they exposed by
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Social interaction, language communication, and range of interests and activities. These symptoms develop before age 3.
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Red flags for autism
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1) No big smiles or joyful actions by 6 months.
2) No back and forth sharing of noises or facial expressions by 9 months 3) No babbling by 12 months 4) No back and forth gestures such as pointing and waving by 12 months. 5) No words by 16 months 6) No two word meaningful phrases by 24 months 7) Any loss of speech or social skills at any age 8) No eye contact |
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Mitochondrial conditions
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Associated with waxing and waneing in condition
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Chromosomal causes of secondary autism
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Angleman
Prader willi |
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Single gene disorders associated with autism
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1) Fragile X syndrome
2) Rett syndrome 3) Tuberous sclerosis complex (TSC) 4) Soto syndrome 5) PTEN associated disorders |
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Linkage analysis
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Used to find the rough location of a gene by using genetic markers of which we know the location. Increased frequency in a certain marker in diseased people indicates a possible location of a mutation.
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