1. In open-angle glaucoma, cell damage to the optic nerve causes fluid to accumu
ID: 61149 • Letter: 1
Question
1. In open-angle glaucoma, cell damage to the optic nerve causes fluid to accumulate in the eye. The pressure from the fluid builds up, eventually impairing vision (surgery, laser treatment or drugs can relieve the pressure). (3 points)
A) A tryptophan to arginine mutation in the gene called GLC1A, on chromosome 1, can cause open-angle glaucoma. Referring to the genetic code shown below, write a codon change that explains the amino acid substitution.
________ to ________
B) Some polymorphisms of the GLC1A gene do not affect the phenotype. Referring to the genetic code shown below, write a codon change that explains a proline to proline polymorphism.
________ to ________
C) Why doesn’t the codon change described in (b) above alter the protein product?
Explanation / Answer
A. The codon changes from UGG to CGG.
B. The codon change from CCA to CCG would not affect the phenotype.
C. The codon change given B would not change the protein product as both the codon code for the Proline residue and also the single nucleotide polymorphism change is a purine to purine change.
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