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Molecular Basis of Inheritance
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Substitution (Replacement): In substitution a nitrogen base is changed with another base. It is of two types—transition and tranversion 1. Transition : Purine is replaced by purine (AG) while pyrimidine is replaced by pyrimidine (CT,CU), 2. Transversion : Purine is replaced by pyrimidine (A→C) while pyrimidine is replaced by purine (C→A),e.g.:SCA(GAG→GUG). A classical example of point mutation is a change of single base pair in the gene for beta globin chain that results in the change of amino acid residue glutamate to valine. It results into a diseased condition called as sickle cell anemia.