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Aliya1 Aliya1
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5 years ago
#3. 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.

bloom syndrome
chromosomal location

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.

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. (2 marks)
bloom syndrome mutation
 
here are the images that go with this question. if you can please help me out with this i can answer the next 2 on my own.

#4.What would be the effect of this mutation on DNA replication? What stage of the cell cycle would be most affected?
#5.Note the location of the centromere in the diagram above. Knowing how the distance from the centromere affects the likelihood of crossing over, explain whether a Bloom syndrome trait has a high or low chance of crossing over.
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bio_manbio_man
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5 years ago
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Aliya1 Author
wrote...
5 years ago
hi, thank you so much. can you please answer #3 for me? that's the one i am stuck on

#3.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. (2 marks)
bloom syndrome mutation
wrote...
Valued Member
Educator
5 years ago
Furthermore, according to the pedigree, it's likely a homozygous recessive trait (aa causes the effects we see). Also, it doesn't matter what your gender is, as it affects both males and females.

I did Upwards Arrow
Aliya1 Author
wrote...
5 years ago
ohh sorry i thought that was all for #5. but thank you for letting me know Slight Smile
wrote...
Valued Member
Educator
5 years ago
Anyway I hope that's what they're looking for. I included my analysis in my initial post, see attachment.
Aliya1 Author
wrote...
5 years ago
alright, i think that is what they're looking for i had a similar answer to you. thank you so much. have you got a chance to answer my other post regarding question #40 and #42?
wrote...
Valued Member
Educator
5 years ago
What's the link?
Aliya1 Author
wrote...
5 years ago Edited: 5 years ago, Aliya1
hi, sorry for making you wait, i'm working on another assignment atm. but there is the link https://biology-forums.com/index.php?topic=1822768.msg4648943#msg4648943 i couldn't find the new topic where my questions were so this is the original post
Post Merge: 5 years ago

i found it Slight Smile here's the link for questions 40 &42 https://biology-forums.com/index.php?topic=1823389.msg4647542#msg4647542
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