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2 2 3 4 5 6 7 8 IV 3 4 5 67 IV 1 2 1 2 1 2 3 4 5 6 7 8 1 2 3 4 5 67 The figure b

ID: 254865 • Letter: 2

Question

2 2 3 4 5 6 7 8 IV 3 4 5 67 IV 1 2 1 2 1 2 3 4 5 6 7 8 1 2 3 4 5 67 The figure below shows the pedigree of a family in which a completely penetrant, autosomal dominant disease is transmitted through three generations, together with microarray analysis of each individual for a biallelic SNP locus (the alleles are C and T) a. Do the data suggest the existence of genetic linkage between the SNP locus and the disease locus? If so, what is the estimated genetic distance between the two loci? b. Calculate the maximum Lod score for linkage between the SNP and the disease locus for this pedigree. What does this value of the Lod score signify?

Explanation / Answer

Yes, this data give the exictance of genetic linkage between the SNP and the disease locus. As we can see in the given third generation one out of 8 is recombinant [all upper red lower whitewhile 8th have upper white and lower red]. so the recombination frequency is 0.125. As this recombination frequency can be conclude to that distance is 12.5 cM.

Lod score of this is 1.099

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