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Anatomy · Genetics: linkage analysis
Sample itemA family study of an autosomal dominant disorder gives a maximum LOD score of 3.0 between the disease locus and a DNA marker. How is this result interpreted?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Odds of 1000 to 1 in favour of linkage
The LOD score is the base 10 logarithm of the odds that two loci are linked versus unlinked. A score of 3 means 10 to the power 3, or odds of 1000 to 1, and is the conventional threshold to accept linkage (a score of minus 2 excludes it). The LOD score does not itself give the recombination fraction, which is estimated separately as the value at which the score is maximal.
Option by option
A. Three times greater probability of linkage than of non-linkage
Three times would be a LOD of about 0.5; a LOD of 3 is a thousand-fold.
B. A 3% probability that the result occurred by chance
The score is a log of odds, not a probability of chance, and 1000 to 1 is much stronger than 3%.
C. Odds of 1000 to 1 in favour of linkage (correct)
Correct. A LOD of 3 equals odds of 1000 to 1 in favour of linkage.
D. A recombination fraction of 3%
The recombination fraction is a separate estimate, not the LOD score value.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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