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18 Cards in this Set
- Front
- Back
What does polyploidy refer to? |
Having multiple "sets" of chromosomes (3n, 4n) |
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What does aneuploidy refer to? |
Having an abnormal number of a specific chromosome |
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Diagnosis? |
Trisomy 21 |
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What ranges of CGG repeats define normal, premutation and full mutation in Fragile X? |
1) normal: <40 2) premutation: 40-200 3) full mutation: 400-2000 |
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What sizes on Southern blot correspond to normal premutation and full mutation in inactive and active fragments? |
1) normal: inactive, 5.2; active, 2.8 2) premutation: inactive, 5.3-5.7; active 2.9-3.3 3) full mutation: inactive and active, >5.7 |
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What does patient C have? What does patient E have? |
1) premutation 2) full mutation |
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If a southern blot shows premutation, what is the next step? |
PCR sizing |
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If this is an array CGH of the parental chromosome, what does the patient have? |
Prader-Willi syndrome |
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Patient with ALL, what is the prognosis? |
Good prognosis (hyperdiploidy) |
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Karyotype abnormality? Diagnosis? Where is the breakpoint? |
1) t(9;22) 2) CML 3) bcr (breakpoint cluster region) |
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What type of probe? If this is chromosome 16, what is the diagnosis? What would you see on a bone marrow aspirate smear? |
1) Breakapart probe 2) AML with inv(16) 3) Eobasos |
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What is a silent mutation? |
Mutation in a codon that doesn't change the amino acid |
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What is a missense mutation? What types are there? |
1) A mutation that changes an amino acid.
2) Conservative (Asp-->Glu) vs. non-conservative (Glu-->Val) |
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What is a non-sense mutation? Example? |
1) Mutation that introduces a premature stop codon. 2) b0 thal CAG-->TAG (sardinia) |
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Give an example of a frameshift mutation.
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Tay-sachs (4 bp insertion) |
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How does nested PCR influence sensitivity and specificity? |
It increases both |
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What is the basis for DNA methylation analysis? |
Conversion of C to U by metabisulfite that is blocked in methylated DNA |
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What is linkage disequilibrium? |
Non-random association between alleles at different loci. |