Question

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A. SICKLE CELL ANEMIA: GENETICS AND EVOLUTION

Circle the mutation in DNA of the sickle-cell beta-globin gene fragment in the table below:
Wild-type beta-globin gene fragment
C A C G T A G A C T G A G G A C T C

Sickle-cell beta-globin gene fragment
C A C G T A G A C T G A G G A C A C


Transcribe beta-globin DNA into mRNA. Note: DNA is already arranged in triplet sets (below).

Translate mRNA codons into amino acids of hemoglobin protein sequence using the chart on page 3.



Wild-type beta-globin gene fragment
C A C G T A G A C T G A G G A C T C

Transcription produces mRNA fragment:
Translation produces wild-type beta-globin polypeptide fragment:

Sickle-cell beta-globin gene fragment
C A C G T A G A C T G A G G A C A C

Transcription produces mRNA fragment:
Translation produces mutant beta-globin polypeptide fragment:

Answer 1

In this example an adenine replaces a thymine. Wild-type mRNA  GUGCAUCUGACUCCUGAG/ Protein Val-His-Leu-Thr-Pro-Glu. Mutated mRNA GUGCAUCUGACUCCUGUG/ Protein Val-His-Leu-Thr-Pro-Val.  

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Mutations are changes that occur in DNI nucleotide sequences that introduce new variants.

There are different types of mutations. In the exposed example, the last thymine from the Wild-type beta-globin gene fragment is replaced by an adenine in the Sickle-cell beta-globin gene fragment. The other bases remain equal.

Wild-type gene fragment    ⇒     C A C G T A G A C T G A G G A C T C

Sickle-cell gene fragment   ⇒     C A C G T A G A C T G A G G A C A C

Wild-type beta-globin gene fragment

• Transcription

Transcription occurs in the nucleus. In RNA uracil replaces thymine.

While growing mRNA molecule,

• adenine pairs uracil,

• thymine pairs adenine, and

• guanine pairs cytosine.

DNA    ⇒    C A C G T A G A C T G A G G A C T C

mRNA  ⇒   G U G C A U C U G A C U C C U G A G

• Translation

Translation occurs in the cytosol. mRNA codons codify for amino acids.

Codons have been separated by a space.

mRNA  ⇒   G U G      C A U          C U G           A C U       C C U      G A G

Protein ⇒  Valine  -  Histidine  -  Leucine  -  Threonine - Proline - Glutamine

Sickle-cell beta-globin gene fragment

• Transcription

DNA    ⇒   C A C G T A G A C T G A G G A C A C

mRNA ⇒   G U G C A U C U G A C U C C U G U G

• Translation

mRNA  ⇒   G U G      C A U         C U G           A C U         C C U     G U G

Protein ⇒  Valine  -  Histidine  -  Leucine  -  Threonine - Proline -  Valine

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