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Block 4 Biochem
Genetic Test Interpretation
5
Biochemistry
1st Grade
11/15/2012

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Term
Philadelphia chromosome?
Definition
-Results in chronic myelogenous (granulocytic) leukemia
-From a reciprocal translocation between 22 and 9 (not Robertsonian)
Term
Denaturing Gel Electrophoresis?
Definition
-Uses a gradient in the gel of a denaturing chemical that becomes increasingly more intense
-differences in fragments of the same length often cause them to partially melt at different positions in the gradient and therefore "stop" at different positions in the gel
Term
DNA sequence analysis for disease detection?
Definition
-Uses ddNTPs to stop synthesis at random lengths
-Great for point mutations and highly specific
-However, doesn't usually include promotor regions, isn't very good at detecting deletions or insertions of exons, and you need to know what your looking for
Term
What are the three big direct methods of genetic testing?
Definition
-PCR analysis
-Southern blot (and all the other blots)
-Sequencing
Term
LOD score?
Definition
-Log of Odds
-Broadly, it is used to asses the degree of genetic linkage for loci (tendency to be inherited together)
-A score of 3 or more is needed for there to be linkage
-The higher the score, the more closely linked the loci (closer they are on a chromosome)
-Can be used to map genes out, but requires lots of offspring otherwise genes might be inherited together by chance alone
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