1. Marshal et al., (Am J. Human Genetics, 82:477-88, 2008) propose that autism m

Question

1. Marshal et al., (Am J. Human Genetics, 82:477-88, 2008) propose that autism may be caused by duplication mutations that increase the number of copies of developmental regulatory genes. A child has been brought to you with symptoms of autism. It has been proposed that the cause of this child’s symptoms is a duplication of the CDP gene (CCAAT Displacement Protein, OMIM116896, location 7q22.1).

a. What test or tests would you do to see if Marshal’s hypothesis might be correct for this patient?

b. What results you would expect from your test if the hypothesis were true?

c. Explain to the parents of the autistic child (who are not scientists) how you will do the test(s), and how the results could explain the cause of their child’s symptoms.

2. Human chromosomal DNA contains several different repetitive DNA sequences that do not code for proteins but which do have a function.

a. Give three different examples of such sequences.

b. For each of these sequences give a brief description of their function.

Explanation / Answer

a) The CDP gene can be silenced through RNAi technique and checkthe effect in cell. We can also give anti CDP drugs to the child to see the outcome of the gene

b) If the hypothesis is correct the cell system should not change in its process and growth

c) We can explain to the parents that tests are done with extreme care and no side effects for test and in the other case tests are done in cell system, so direct damage to kid is not there. And if the results are positive, the symptoms would obviously gets reduced because of suppression of gene

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