QuestionSBA
QuestionChoice
This is a mutation of the regulatory sequence.
10006690
e
The genome coding sequence is still intact, but the gene is abnormally switched on or off
QuestionChoice
This is a duplication mutation, which can lead to the incorrect protein being generated.
10006688
c
Sections of the genome are repeated
QuestionChoice
This is a mis-sense mutation, such as in sickle cell disease where CAG is replaced with CTG. Mis-sense mutations can have a varied effect, such as being a silent mutation or resulting in a non-functional protein.
10006686
a
Point mutation where a single nucleotide change results in a codon that codes for a different amino acid
QuestionChoice
This is an in-frame deletion mutation, which only leads to one amino being lost and keeping the reading frame intact. An out-of-frame deletion would cause the whole gene sequence to sift, causing the reading frame of the gene to change.
10006689
d
One codon is removed, so only one amino acid is lost
QuestionChoice
This is a non-sense mutation, such as in Duchenne’s muscular dystrophy. This results in an incomplete, usually non-functional protein.
10006687
b
Point mutation that produces a stop codon
Concept
Chapter
2693
3890
Mechanisms of genetic disorders
Topic
156
Medical Genetics
13884
Which of the following best describes a mis-sense mutation?
a