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Types of Mutation A sentence made of three-letter words can provide an analogy t

ID: 92324 • Letter: T

Question

Types of Mutation A sentence made of three-letter words can provide an analogy to the effect of mutations on a gene's DNA sequence.

Normal THE ONE BIG FLY HAD ONE RED EYE

Missense THQ ONE BIG FLY HAD ONE RED EYE

Nonsense THE ONE BIG

Frameshift THE ONE QBI GFL YHA DON ERE DEY

Deletion THE ONE BIG HAD ONE RED EYE

Insertion THE ONE BIG WET FLY HAD ONE RED EYE

Duplication THE ONE BIG FLY FLY HAD ONE RED EYE

Expanding mutation

Generation 1 THE ONE BIG FLY HAD ONE RED EYE

Generation 2 THE ONE BIG FLY FLYFLY HAD ONE RED EYE

Generation 3 THE ONE BIG FLY FLYFLYFLYFLY HAD ONE RED EYE

Describe a genetic disorder resulting from one of the mutations listed in the table. What is the mode of inheritance of your chosen disorder? What does the affected gene sequence look like in comparison to the normal sequence? What is the change in the amino acid sequence as a result of the disorder?

Explanation / Answer

Genetic disorder chosen: Sickle cell anaemia. Sickle cell anaemia is a genetically inherited disease, in which genes coding for hemoglobin undergo missense mutation and abnormal Sickle shaped hemoglobin is produced. Such an abnormal hemoglobin has reduced capacity to deliver oxygen to tissues. The mode of inheritance of Sickle cell anaemia: recessive , i.e. child should inherit mutated copy of this gene from both mother and father. Mutation is caused due to a single point mutation in codon for 6th amino acid in which A (adenine) is replaced by T (thymine). [GAG to GTG}. GAG codes for glutamic acid (Glu) but GTG (GUG in RNA)codes for valine (Val) THUS CHANGE IN AMINO ACID IS AT SIXTH POSITION OF AMINO ACID SEQUENCE WHERE GLU IS CHANGED TO VAL . Change occurs in the amino acid sequence of hemoglobin (part of RBC ).