Mutational Mechanisms and Disease

Question 1

______________ is an example of a loss of function mutation, where we see a complete loss of protein

Answer 1

Duchenne Muscular Dystrophy

Question 2

____________ is an examples of a loss of function mutation, where we see a reduction in the amount of a protein.

Answer 2

Alpha-thalasemmia

Question 3

In _________________, there is nonsense/ frameshift mutation in COL1A1 which leads to premature termination. Clinically characterized by increased fractures, brittle bones and blue sclera.

Answer 3

Osteogenesis Imperfacta type I

Question 4

In ____________, we see a beta hemoglobin gene Asp22Asn missense mutation which leads to a hemoglobin molecule which has higher than normal oxygen affinity and is less able to unload oxygen into tissues.

Answer 4

Hemoglobin Kepsey

Question 5

in ___________, the FGFR3 Gly380Arg mutation increases the normal signaling of intracellular tyrosine kinase domain (essentially having the receptor always in the turned on state)

Answer 5

Achondroplasia

Question 6

Heterochronic expression

Answer 6

Wrong timing of gene due to a mutation

Question 7

Ectopic Expression

Answer 7

Wrong location of a gene due to a mutation

Question 8

In Thalassemia, mutations can disrupt production of a normal protein during ______ and ________

Answer 8

Transcription and Translation

Question 9

In Hereditary Persistance of Fetal Hemoglobin, mutation can disrupt production of a normal protein during _________

Answer 9

Transcription

Question 10

In osteogenesis imperfecta, mutation can disrupt production of a normal protein during

Answer 10

Assemble of monomers into a holomeric protein

Question 11

Thalassemia is due to reduced or absent production of a __________ because of deletion or mutation in regulatory or splice sites of the globin gene.

Answer 11

globin mRNA

Question 12

Hemoglobinopathies have mutation that effect ___________

Answer 12

Polypeptide folding

Question 13

I-cell disease, a lysosomal storage disease is due to a mutation in ____________

Answer 13

Post translation modification

Question 14

Familial hypercholesterolemia mutation is affect normal cell synthesis on the level of _________

Answer 14

Subcellular localization of the polypeptide of the holomer

Question 15

Class I mechanism for repeat disorders includes the expansion of _____________. Fragile X is an example of this.

Answer 15

non-coding repeats (conferring loss of function)

Question 16

Class II mechanism for repeat disorders includes the expansion of ____________. An examples if myotonic dystrophy.

Answer 16

non-coding repeats (conferring novel properties)

Question 17

Class III mechanism for repeat disorders includes the expansion of ________ and includes Huntington’s disease.

Answer 17

Exons