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genetics lab quiz 7

front 1

What are genes?

back 1

Segments of DNA that contain instructions for making proteins

front 2

DNA segments consist of what?

back 2

Exons and introns

front 3

What are exons?

back 3

coding regions

front 4

What are introns?

back 4

noncoding regions that are typically edited out during mRNA editing

front 5

Humans have how many genes?

back 5

20,000 to 25,0000

front 6

Variants if genes are called what? What are they responsible for?

back 6

Alleles and they are responsible for differences seen between
individuals of the same species

front 7

What are mutations in genes?

back 7

They are any change in the nucleotide sequence of a gene, which can affect one or more nucleotides

front 8

True or false. Mutations can be beneficial, neutral, or harmful.

back 8

True

front 9

What are they types of mutations that can occur?

back 9

Point mutations, Insertions/Deletions, Frameshift, Duplication, Inversion, Translocation Mutation

"pretty interesting fish dive in tanks"

front 10

What are point mutations?

back 10

It is when a single nucleotide is altered.

front 11

What is an example of point mutations?

back 11

sickle cell(missense) and Beta Thalassemia(nonsense)

front 12

What are the 3 different categories of point mutations?

back 12

Silent: Even with the new nucleotide the amino acid is not changed
Missense: The mutation results in a different amino acid
Nonsense: Creates a premature stop codon, the protein will be shorter than anticipated, which could render it nonfunctional

front 13

What are insertion and deletion mutations?

back 13

It is either the addition or loss of one or more nucleotides. It can lead to a frameshift mutation.

front 14

What is an example of an insertion mutation?

back 14

Tay-Sachs Disease: Occurs when a four base pair insertion in the HEXA gene, which leads to the destruction of nerve cells in the brain and spinal cord.

front 15

What is an example of a deletion mutation?

back 15

Cystic fibrosis: When a three-base pair deletion in the CFTR gene, which leads to the production of a thick and sticky mucus caused by the misfolded protein

front 16

What is a frameshift mutation?

back 16

It is caused by insertions or deletions that are not in a multiple of
three. Creates a completely different protein, which can hinder it
nonfunctional

front 17

What are examples of frameshift mutations?

back 17

Duchenne Muscular Dystrophy: Caused by insertions or deletions in the dystrophin gene on the X chromosome. This causes progressive muscle weakness and degeneration

Familial Hypercholesterolemia: Affects the LDLR gene creating a mutation in the LDL receptor, which allows LDL cholesterol (“bad” cholesterol) from passing from the blood to cells for use

front 18

What is a duplication mutation?

back 18

Segment of DNA is duplicated, resulting in multiple copies of that region

front 19

What is an example of duplication mutations?

back 19

Charcot-Marie-Tooth Disease: Caused by duplication in PMP-22 gene, leading to damage to peripheral nerves. Also known as HMSN and PMA

Huntington’s Disease: Caused by a duplication of CAG repeats in the HTT gene on chromosome 4. This causes deterioration to nerves in the brain when a person reaches their 30s or 40s

front 20

What is a inversion mutation?

back 20

A segment of DNA is flipped in orientation within the chromosome

front 21

What are examples of inversion mutations?

back 21

Hemophilia A: Individuals have a lack of blood clotting factor VIII, leading to excessive bleeding

Breast cancer, stomach cancer, and T-cell lymphoma

front 22

What is translocation mutation?

back 22

When a segment of DNA is moved from one location in the genome, including being moved to a different chromosome. When 2 independent genes create a single hybrid gene

front 23

What are the examples of translocation mutations?

back 23

Chronic Myelogenous Leukemia: A translocations between chromosomes 9 and 22, creating the BCR-ABL fusion
causing uncontrolled cell division. Results in bone marrow producing too many white blood cells

Burkitt Lymphoma: A translocation involving MYC gene and immunoglobulin genes, overexpressing MYC. Usually develops after acquiring immunodeficiency from Epstein-Barr Virus or HIV