The substitution of a t for an a in the protein coding sequence of the globin gene introduced a snp. this snp changed an amino acid resulting in sickle cell anemia. unaffected individuals have the dna sequence gaggag, a bseri restriction enzyme site, in their gene generating two dna fragments of 2 and 4 kb. the a to t substitution occurs within the bser1 site thus inactivating the site (gtggag). draw the rflp gel including results for a carrier, as well as homozygous normal and affected individuals.

Sickle cell anemia refers to a recessive inheritance disorder, in which every individual carries two copies of a gene. In normal individuals, both the copies of the globin gene are normal, and they generate 2 and 4 kb fragments of DNA on digestion by BseR1. A patient with sickle cell anemia is homozygous for the recessive gene and exhibits a mutation in both the copies of a globin gene.  

Therefore, BseR1 could not digest the globin gene and generate a single 6Kb fragment of DNA. In a patient acting as a carrier, one copy of a globin gene is mutated and the other is normal. As a consequence, BseR1 digestion generates 6kb of the fragment of DNA (mutated copy) and 4 and 2 kb from the normal copy of a gene.  

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