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Genetic Diagnosis (G band karyotype (for whole chromosome changes, can…
Genetic Diagnosis
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FISH
RAPID FISH
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probes for chrom. 13, 18, 21, X, Y (common aneuploidy disease)
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PCR
danature at 95 celcius, anneal primers at 45-65 celcius, amplify, gel electrophoresis
(temp dependent - uses Taq poly)
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Triple Repeat Expansion:
-HD (CAG)
-myotonic dystrophy (CTG)
-fragile X (CGG)
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anticipation --> severity increase in later generations, earlier onset
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DNA SEQUENCING
di-deoxy sequencing
set up 4 DNA synthesis reaction --> add the same thing as Sanger --> when it reaches a ddNTP, then synthesis STOP bc no free 3' OH --> can be automated with fluorescent ddNTP that is run through a laser
Sanger Sequencing
add ddNTP To DNA template with some DNA poly --> when it reaches a ddNTP, then synthesis STOP bc no free 3' OH --> run through gel electrophoresis to find sequencing
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