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 childâs 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 Marshalâs 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 childâs 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.
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 childâs 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 Marshalâs 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 childâs 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.
