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18 Cards in this Set

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What does polyploidy refer to?

Having multiple "sets" of chromosomes (3n, 4n)

What does aneuploidy refer to?

Having an abnormal number of a specific chromosome
Diagnosis?

Diagnosis?

Trisomy 21

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

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
What does patient C have? What does patient E have?

What does patient C have?


What does patient E have?

1) premutation


2) full mutation

If a southern blot shows premutation, what is the next step?

PCR sizing
If this is an array CGH of the parental chromosome, what does the patient have?

If this is an array CGH of the parental chromosome, what does the patient have?

Prader-Willi syndrome
Patient with ALL, what is the prognosis?

Patient with ALL, what is the prognosis?

Good prognosis (hyperdiploidy)
Karyotype abnormality? Diagnosis? Where is the breakpoint?

Karyotype abnormality? Diagnosis? Where is the breakpoint?

1) t(9;22)


2) CML


3) bcr (breakpoint cluster region)
What type of probe? If this is chromosome 16, what is the diagnosis? What would you see on a bone marrow aspirate smear?

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

What is a silent mutation?

Mutation in a codon that doesn't change the amino acid

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)

What is a non-sense mutation? Example?

1) Mutation that introduces a premature stop codon.


2) b0 thal CAG-->TAG (sardinia)
Give an example of a frameshift mutation.

Tay-sachs (4 bp insertion)

How does nested PCR influence sensitivity and specificity?

It increases both

What is the basis for DNA methylation analysis?

Conversion of C to U by metabisulfite that is blocked in methylated DNA

What is linkage disequilibrium?

Non-random association between alleles at different loci.