Bloom Syndrome Assignment | Assignment Help Services
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.
Below is a pedigree showing the genealogy of the BLM mutation in one family. What is the type of inheritance that causes this disorder? Justify your answer with two points (see attached).
What would be the effect of this mutation on DNA replication? What stage of the cell cycle would be most affected?