Bloom Syndrome Bloom syndrome is a rare genetic disorder. It is characterized by a short stature and a long narrow face with prominent nose and ears. There is also an increased sensitivity to light. People who have the disorder often develop rashes on their face, forearms, and hands when they have been exposed to the sun. In addition, these people often suffer from chronic obstructive pulmonary disorder (COPD) and have a higher chance of developing cancer. The cause of this genetic disorder is a mutation in the BLM gene located on chromosome 15. The immediate effect of this mutation is that there is a defect in the functioning of the DNA helicase enzyme. The location of this gene on the chromosome is indicated above (yellow arrow). What is the effect of this mutation on DNA replication? What stage of the cell cycle would be most affected?
Bloom Syndrome
Bloom syndrome is a rare genetic disorder. It is characterized by a short stature and a long narrow face with prominent nose and ears. There is also an increased sensitivity to light. People who have the disorder often develop rashes on their face, forearms, and hands when they have been exposed to the sun. In addition, these people often suffer from chronic obstructive pulmonary disorder (COPD) and have a higher chance of developing cancer.
The cause of this genetic disorder is a mutation in the BLM gene located on chromosome 15. The immediate effect of this mutation is that there is a defect in the functioning of the DNA helicase enzyme. The location of this gene on the chromosome is indicated above (yellow arrow).
- What is the effect of this mutation on
DNA replication ? - What stage of the cell cycle would be most affected?
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