Gene mutations classifcation

Question 1

Mutations are ____ from a parent and are present throughout a persons life

Answer 1

Inherited (germline)

Question 2

Inherited gene mutations are also called ____ mutations

Answer 2

germline

Question 3

because they are present in the paren’t egg or sperm cells (aka germ cells)

Answer 3

why they are called germline mutations

Question 4

mutations occur at some point during a person’s life

Answer 4

acquired

Question 5

present only in certain cells

Answer 5

acquired

Question 6

present in every cell of the body

Answer 6

inherited

Question 7

changes can be caused by environmental factors such as ultraviolet radiation from the son or by mistake as DNA copies itself during cell division

Answer 7

acquired

Question 8

Deletions
Duplications
Inversions
Translocations

Answer 8

Mutations at chromosomal level

Question 9

Acute lymphoblastic Leukemia
Retinoblastoma
Chronic Myelogenous Leukemia (CML)
Burkitt’s Lymphoma

Answer 9

Examples of mutations at the chromosomal level

Question 10

Rare form of cancer that rapidly develops from the immature cells of a retina, the light-detecting tissue of the eye. It is the most common malignant cancer of the eye in children

Answer 10

Retinoblastoma

Question 11

• C-abl encodes a cytoplasmic tyrosine kinase
• Bcr promotes oligomerization
• Bcr-abl fusion promotes activation of abl by oligomerization induced autophosphorylation
• Translocation resulting in fusion of 2 genes with altered structures of normal c-abl protein
• Philadelphia chromosome – translocation of chromosome 9 and 22

Answer 11

CML

Question 12

C-abl encodes a cytoplasmic _______ _______

Answer 12

tyrosine kinase

Question 13

_____ fusion promotes activation of abl by oligomerization induced autophosphorylation

Answer 13

Bcr-abl

Question 14

• MYC oncogene is brought under the transcriptional control of the IG enhancer elements leading to its constitutive transcriptional deregulation
• Associated with the Epstein-Barr Virus (EBV) in nearly 100% of cases in endemic form in central Africa.
• In the sporadic forms (occur in Western countries), EBC is present in approximately 30% of cases and in 40% of immunodeficiency-associated cases

Answer 14

Burkitt’s Lymphoma

Question 15

____ oncogene is brought under the transcriptional control of the IG enhancer elements leading to its constitutive transcriptional deregulation

Answer 15

MYC

Question 16

Base substitutions
Frameshift mutation
Deletion
Insertion
SNP

Answer 16

Mutations at the DNA level

Question 17

Transition (purine for purine, pyrimidine for pyrimidine)
Transversion (purine for pyrimidine)

Answer 17

Base substitutions

Question 18

From where that mutation is placed, the following will be incorrect

Answer 18

Frameshift

Question 19

Silent
Missense
Nonsense

Answer 19

Consequences of Point mutations

Question 20

change of amino acid (hemoglobinopathies/SS/T for A/; glutamic acid to valine

Answer 20

Missense

Question 21

generation or deletion (change) to stop codon

Answer 21

Nonsense

Question 22

form stop codon to glutamine @ 142 (TAA to CAA) in alpha-thalassemia

Answer 22

Constant Spring

Question 23

Decreased protein produced - what type of point mutation consequence?

Answer 23

nonsense

Question 24

Nonsense example

Answer 24

a-thalassemia (deletion to STOP codon)