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You are mapping a rare autosomal recessive disorder and linkage points towards a

ID: 61586 • Letter: Y

Question

You are mapping a rare autosomal recessive disorder and linkage points towards a location on chromosome 7. To refine the location of the disease gene, you determine the genotype for 11 additional markers that map to an approximately 65 Mb region on the long arm of chromosome 7. Alleles for each of these markers are shown for one family. Mark the smallest interval that likely harbors your disease gene. Explain your logic. (To answer this question, think about chromosome segregation during meiosis. It will likely be helpful for you to differentiate the chromosome 7 regions that carry the disease gene by color-coding each parental chromosome or chromosome segment using the marker information. What segments can you exclude from being responsible for the disease? What is left is your disease interval).

Explanation / Answer

The markers 3,8,2 and 4,5,1 are both together in the diseased phenotypes making up the autosomal recessive condition. This arrangement is not there in both of the parents, nor elsewhere. Hence, most probably this is the segment carrying the gene responsible,

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