What is the effect of point mutations in DNA on proteins? How does this relate to...

What is the effect of point mutations in DNA on proteins?

How does this relate to phenotypic variation, genotypes and alleles?

Answer in 4-5 sentences giving a REAL example of such a mutation.

Expert Solution

Answer. Point mutation refers to the change in a single base. Let's take an example of sickle cell anaemia. Normal individual has GAG sequence in the beta-chain of the hemoglobin in its DNA, this sequence codes for the glutamic acid, which is an amino acid. This glutamic acid is the sixth amino acid of the beta polypeptide chain.

Point mutation of GAG to GTG, leads to the the change in DNA from the previous situation and as a result mRNA will be different from the previous situation. This GTG sequence of DNA will have CAC in the template strand of DNA, GUG in the mRNA and Valine aminoacid will be coded for this codon. So, here change in one base has changed the sixth amino acid of the beta polypeptide chain. This changed amino acid disrupts the normal shape of RBCs to sickle shaped, which reduces the oxygen carrying capacity of an individual. Carrier individuals for this trait survive but the homozygous individuals die at a very early age.

Purines are adenine and guanine and pyrimidines are the cytosine and the guanine. If purine is changed with a purine or pyrimidine with a pyrimidine then the point mutation is termed as transition. But if purine changes with pyrimidine and vice versa then it is known as transversion.

gladiator answered 1 year ago

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