Q5 (12 points): Patient #5 has the following abnormality: A B 17 (normal) 17 A B
ID: 277172 • Letter: Q
Question
Q5 (12 points): Patient #5 has the following abnormality: A B 17 (normal) 17 A B C BAD EF A) Name this abnormality. B) How many copies of each gene in the affect ed regions does Patient #5 have? C) Suppose Patient #5 became the progenitor of a population of humans that have inherited this abnormality. Describe what could happen to the extra copies of these genes in this population over time. We discussed two possibilities in class. D) In the space below, show how a crossover could result in an inversion in the abnormal Chromosome 17Explanation / Answer
A) The abnormality is Duplication associated with Paracentric Inversion: The genes A, B are duplicated and have been inverted and inserted in the chromosome to make it abnormal. It is called Paracentric because the genes are not involving the Centromere.
B) The abnormal chromosome has one extra copy of the genes A and B in the affected region. The other genes remain unchanged in terms of number.
C) The possibilities are
1. Divergence: The extra copies of these genes begin to encode a slightly different protein, as the population increases. The accumulation of differences (caused due to abnormality) in the chromosomes is what is Divergence.
2. Neo-functionalization: The second copy of the genes will not cause any harm to the organism. The duplicate genes accumulate over generations and it is possible for that gene to develop a new function, other than the original gene's function.
D) At first, the genes A and B duplicate to form an extra copy
Then, there are 2 breaks, 1 each at 2 locations of the chromosome beyond the centromere. The extra gene copy now goes and gets inserted in the inverted manner in the order of --B-A-- making it an abnormal chromosome. Abnormality caused by Duplication associated with Paracentric Inversion.
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