Molecular Genetics - part II

Restriction Enzyme Sites:

There did not appear to be a modification in RFLP sites when the codon 1137 was changed from CGC to CCC (Arginine to Proline) as previously described. Utilizing ClinVar,  a variant was identified as 2055C>G (#95 on ClinVar). This variant lead to a change in the frequency of the BsRDI cutting enzyme from 6 to 5 with a loss of the enzyme near the site of the variant.

Agarose gel simulations for this change are depicted below. The native sequence had 6 bands (6079bp, 2595bp, 1395bp, 891 bp, 402bp, and 333 bp). The variant sequence has 5 bands (8674 bp, 1395 bp, 891 bp, 402 bp, and 333 bp).  

RFLP summary of original sequence

Agarose gel simulation of original sequence

RFLP summary of variant sequence

Agarose gel simulation of variant sequence