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An mRNA transcript has been sequenced and digested into fragments. Below is the

ID: 216862 • Letter: A

Question

An mRNA transcript has been sequenced and digested into fragments. Below is the consensus sequence for a short fragment of this mRNA. Use it to answer the following questions. 5' - GCCGAUCGAACU - 3'

(a) Some fragments contained the sequence: 5' - GCCAUGAUCGAACU - 3' Compared to the consensus sequence, what type of mutation would most likely result from this?

(b) Some fragments contained the sequence: 5' - GCCGAUGAACU - 3' Compared to the consensus sequence, what type of mutation has occurred here?

Explanation / Answer

Insertion mutation-Insertions are mutations in which extra base pairs are inserted into a new place in the DNA. The number of base pairs inserted can range from one to thousands!

Example of Insertion Mutation: Huntington's disease and the fragile X syndrome are examples of insertion mutation wherein trinucleotide repeats are inserted into the DNA sequence leading to these diseases.

Deletions mutation- Deletions are mutations in which a section of DNA is lost, or deleted. The number of base pairs deleted can again range from one to thousands!

Insertions and Deletion mutations are often together dubbed as INDELS.

Example of Deletion Mutation: 22q11.2 deletion syndrome is caused by the deletion of some bases of chromosome 22. This disease is characterized by cleft palate, heart defects, autoimmune disorders etc.

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