Term
| when ea homolog separates and migrates to opposite poles |
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Definition
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Term
| purpose of the poly AAA tail |
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Definition
| added at the end of transcription signals it to be moved to cytoplasm for translation |
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Term
| nondisjunction in early embryo mitotic division |
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Definition
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Term
| unequal crossing over resulting in an abnormal phenotype |
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Definition
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Term
| what are the suvivable trisomies? |
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Definition
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Term
| 2 best examples of genomic imprinting |
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Definition
| prader willi and angelman syndrome |
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Term
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Definition
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Term
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Definition
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Term
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Definition
| regulatory locus for inactivation of one of the X c'somes in females |
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Term
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Definition
| on the Y c'some; transcription factor for AMH and Testosterone |
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Term
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Definition
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|
Term
| single gene produces several phenotypic effects |
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Definition
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Term
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Definition
| Mannose Binding Lectin 2 - decreased levels in CF = worse pulmonary fxn |
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Term
|
Definition
| increased TGFB = increased pulmonary scaring |
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Term
|
Definition
| linked to earlier onset alzheimers |
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Term
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Definition
| Single nucleotide polymorphism |
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|
Term
| mutations that occur that cause an early stop codon |
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Definition
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Term
| non-wildtype allele that is found at greater than 1% freq |
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Definition
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Term
| 4 assumptions of hardy weinberg law |
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Definition
1. populations are large and matings are random
2. allele frequencies remain constant
3. all individuals equally capable of mating and passing on genes
4. no significant imigration of individuals with diff alleles |
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Term
| mating with subgroups such as within a certain ethnic group |
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Definition
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Term
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Definition
| mate selection based on particular traits |
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Term
| 4 effects that mutations have on protein function |
|
Definition
1. loos of fxn
2. gain in fxn
3. novel property
4. altered reg seq (oncogenes) |
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Term
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Definition
| cleft palate following mandibular hypoplasia |
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Term
| abnormal gene activation results in": |
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Definition
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|
Term
| physical impengement results in" |
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Definition
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|
Term
| destruction of irreplaceable fetal tissue results in |
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Definition
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Term
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Definition
| retinoblastoma gatekeeper |
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Term
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Definition
| caretaker TSGs - mutation = breast CA |
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|
Term
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Definition
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|
Term
| heritable vs sporadic retinoblastoma |
|
Definition
| heritable: more severe, mutiple tumors, earlier onset |
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|
Term
| gene expression profiling |
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Definition
| generates expression signatures for particular tumors |
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