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22 Cards in this Set
- Front
- Back
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Products of conception (POC)
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Mixture of amnion, chorion, villi, and fetal tissue after loss
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Chrom Abnormalities not seen in peripheral blood
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+20, +7, i(12p)
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PHA
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Agent that Stimulates Cell Division for mature T cells
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Pokeweed
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Agent that Stimulates Cell Division for B and T cells
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Colcemid
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- Agent that blocks in Metaphase
- poisons spindle |
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Ethidium bromide
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Lengthening Agent
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Actinomycin D
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Lengthening Agent
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Robertsonian translocation
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46,XY,der(14;21)(q10;q10),+21
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Less common Robertsonians
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der(13;21); (15;21), (21;22)
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Trisomy 13 mosaics and robersonian
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- (47,XY,+13/46,XY)
- 13, 14, the most common in man |
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Edward syndrome genetics
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- 80% trisomy 18 w/ low RR (<1%) – a few mosaics – 20% translocation, most w/ partial trisomy 18
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Turner syndrome genetics
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– 50% are 45,X – The rest have 1) structurally abnormal sex chromosome
– 2) Mosaicism for a normal or abnormal cell line – Risk of gonadoblastoma if Y bearing cell line present – do prophylactic gonad removal |
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Turner Syndrome Incidence
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1 in 2000-5000 female live births, 1-2% of all conceptions, 6-7% of all SABs
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Turner Syndrome labs
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- Karyotyping
- Peripheral blood karyotype - extended analysis may be needed to detect mosaicism |
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What does Southern Blot detect?
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gene deletions, rearrangements or amplifications
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What are southern blot limitations
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– Requires enough DNA (~10 mg) that getting an adequate sample from a newborn can be hard
– Sensitivity of ~10% which is relevant in the context of mosaicism – Labor intensive |
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What does PCR do?
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- annealing of oligonucleotides (the primers) to the target DNA
– Real time or quantitative PCR uses a sequence specific probe, in addition to the primers |
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PCR on hetero w/ w/ an interfering sequence variant on the normal allele
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will be incorrectly interpreted to be homo
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PCR on hetero w/ w/ an interfering sequence variant on the mutant allele
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will be incorrectly interpreted to be negative for the mutation
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Sequence variants w/in the PCR primer and/or the sequencing primer
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can prevent amp of the allele w/ the variant
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A deletion within a primer region
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will prevent amp of the allele w/ the deletion
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A sequence result that is falsely (-) for a mutation could be from
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a sequence variant or deletion w/in primer region
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