Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)
Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)
3rd Edition
ISBN: 9780135564172
Author: Mark Sanders, John Bowman
Publisher: PEARSON+
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Chapter 7, Problem 24P

Bloom syndrome (OMIM 210900 ) is an autosomal recessive disorder caused by mutation of a DNA helicase. Among the principal symptoms of the disease are chromosome instability and a propensity to develop cancer. Explain these symptoms on the basis of the helicase mutation.

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How many base pairs are changed in the sickle cell mutation?
Lay out the genetics of Nicholas’s case, including where the mutationoccurred, what exact nucleotide defect was present, why this was aserious type of defect, and why he was so affected by the mutationbut his mother was not.
The following is a list of mutational changes. For eachof the specific mutations described, indicate which ofthe terms in the right-hand column applies, either as adescription of the mutation or as a possible cause.More than one term from the right column can applyto each statement in the left column.1. an A–T base pair in the wild-type gene ischanged to a G–C pair2. an A–T base pair is changed to a T–A pair3. the sequence AAGCTTATCG is changed toAAGCTATCG4. the sequence CAGCAGCAGCAGCAGCAGis changed toCAGCAGCAGCAGCAGCAGCAGCAG5. the sequence AACGTTATCG is changed toAATGTTATCG6. the sequence AACGTCACACACACATCGis changed to AACGTCACATCG7. the sequence AAGCTTATCG is changed toAAGCTTTATCGa. transitionb. basesubstitutionc. transversiond. deletione. insertionf. deaminationg. X-rayirradiationh. intercalatori. slippedmispairing

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Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)

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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY