HBIO- Genetic Mutations
Name_______________________________
HR________Date_________
Mutation 1
1. Transcribe and translate the DNA sequence to produce a normal hemoglobin protein.
mRNA sequence:
AUG CAC GUG GAC GGA GGA CUC CUC UUC
Amino Acid sequence:
Methionine-Histidine-Valine-Aspartic acid - Glycine-Glycine-Leucine-Leucine-Phenylalanine
2. Transcribe and translate the DNA sequence to produce a mutated hemoglobin protein.
mRNA sequence:
AUG CAC GUG GAC GGA GGA CAC CUC UUC
Amino Acid sequence:
Methionine-Histidine-Valine- Aspartic acid - Glycine-Glycine- Histidine -Leucine –Phenylalanine
3. Describe the mutation in the DNA sequence and how that affects this protein chain.
An “A” is switched with a “T” in the DNA sequence, changing the mRNA sequence. The mRNA
sequence calls for Histidine instead of Leucine.
Mutation 2
1. Transcribe and translate the DNA sequence to produce a normal protein from the NOD2 gene.
mRNA sequence:
GCC AGU GUU AGA UUU CUC UGC UGG
Amino Acid sequence:
Alanine-Serine-Valine-Arginine-Phenylalanine-Leucine-Cysteine-Tryplophan
2. Transcribe and translate the DNA sequence to produce the mutated protein of the NOD2 gene.
mRNA sequence:
GCC AGU UGU UAG AUU UCU CUG CUG G
Amino Acid sequence:
Alanine-Serine-Cystenine-Stop-Isoleucine-Serine-Leucine-Leucine
3. Describe the mutation in the DNA sequence and how that affects this protein chain.
An “U” has been inserted between the 6th & 7th codon, which resulted in a shift in the codon
sequence. A new amino acid was made (Cystenine instead of Valine) and then all the following
amino acids were switched.
Mutation 3
1. Transcribe and translate the DNA sequence to produce a normal protein from the FBN1 gene.
mRNA sequence:
UUA GAG CAU GAC UCU AGG GUU CAA CUC GCU
Amino Acid sequence:
Leucine-Glutamic Acid-Histidine-Aspartic Acid-Serine-Arginine-Valine-Glutamine-LeucineAlanine
2. Transcribe and translate the mutated FBN1 sequence.
mRNA sequence:
UUA GAG CAU GAC UCU AGG GUU CAG CUC GCU
Amino Acid sequence:
Leucine-Glutamic Acid-Histidine-Aspartic Acid-Serine-Arginine-Valine-Glutamine-LeucineAlanine
3. Even though this individual has a mutation in the FBN1 gene, they do not have Marfan Syndrome.
Explain why.
CAA and CAG both call for the same amino acid, so there was no effect.