Term
| Aberrations within an individual Chromosome (4) |
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Definition
| Deletion, Duplication, Inversion, Translocation |
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Term
| Ways to create aberrations within a chromosome. (2) |
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Definition
| Crossing Over and Breakage |
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Term
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Definition
-loss of genetic material
-most large gene deletions are lethal when homozygous
-even heterozygous large deletions are usually lethal
-Distinct from point mutations because they cannot be reverted |
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Term
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Definition
Terminal Deletion: delete end of chromosome.
Interstitial Deletion: piece of middle deleted |
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Term
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Definition
| deletion of end of #5 chromosome. |
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Term
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Definition
| Deletion of long arm of #7 |
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Term
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Definition
| Fluorescent in-situ Hybridization |
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Term
| Deletions can result in... |
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Definition
| pseudodominance: where the heterozygous dominant allele is deleted thus having the heterozygous recessive allele follow a dominant pattern in the current/following generations. |
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Term
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Definition
-Increase copy number of affected gene
-Can be tandem or at a distant location
-Unbalanced
-Can form loops during meiosis |
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Term
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Definition
Paracentric/Pericentric
Although no genetic material is lost, if break points occur inside a gene mutations can occur.
-balanced |
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Term
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Definition
| Inversion does not includes centromere |
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Term
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Definition
| Inversion includes centromere |
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Term
| Crossing Over with Inversions |
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Definition
This leads to lethal products
-Paracentric: 1 dicentric bridge, 1 acentric fragment.
-Pericentric: also lethal with large deletions and duplications |
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Term
| Three types of modifications that occur on histones to modify the state of chromatin. |
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Definition
| Methylation, Acetylation, Phosphoylation |
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Term
| Three mechanisms of transcriptional repressors work |
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Definition
| Competition, Quenching, interference with construction of basal machinery. |
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Term
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Definition
| Two chromosomes trade pieces. |
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Term
| Regulation of Trxn Factors |
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Definition
1. Factor is tissue specific
2. Ability of factor is modified post translationally. (e.g. Phosphoylation)
3. Binding of Ligand to factor modifies activity.
4. The intercellular distribution of the factor is regulated.
5. Heterodimer Formation: altered cis-site binding. |
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Term
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Definition
| Degradation of mRNA, Translational Reg. (RISC complex blocks translation), Transcriptional Reg. (RISC complex binds to DNA and turns it from active to inactive) |
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Term
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Definition
| Small (20-25 bp) and they regulate transcription. Act through cosuppression. |
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Term
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Definition
| inhibits the function of microtubules thus doubling the amount of chromosomes. (tetraploids) |
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Term
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Definition
| 2 sets of chromosomes from similar but different species. |
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Term
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Definition
| all chromosomes from same parental set |
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Term
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Definition
| Example is turner's syndrome where females have lost one X chromosome. |
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Term
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Definition
Klienfelter's Syndrome: XXY feminized males
Down Syndrome: Trisomy of chromosome 21 |
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Term
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Definition
loss/gain of one or more chromosomes
Ex: monosomy(loss of one chromosome) or trisomy (addition of one chromosome) |
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Term
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Definition
| heritable change in an organism that is not related to DNA sequence change. |
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