Chapter 11, Problem 38P

As explained in the text, the cause of many genetic diseases cannot yet be discerned by analyzing whole exome/genome sequences. But in some of these seemingly intractable cases, important clues can be obtained by looking at mRNAs or proteins, rather than at the DNA.

a. As you will see in more detail in later chapters, it is possible to use single-molecule methods to sequence cDNA copies of millions of mRNA molecules from any particular tissue cheaply. How could you sometimes use such information to find a disease gene? When would this information be noninformative?

b. A technique called Western blotting allows you to examine any protein for which you have an antibody; it is possible to see differences in size or amount of that protein. How could you sometimes use such information to find a disease gene? When would this information be noninformative?