D1.3 SL / HL

Question 1

Mutation

Answer 1

a change in the DNA sequence of a cell or organism. Mutations can be harmful, beneficial, or neutral.

Question 2

Locus

Answer 2

the physical location of a gene on a chromosome

Question 3

Point mutation

Answer 3

A genetic alteration caused by the substitution of a single nucleotide for another nucleotide. Also called point variant.

Question 4

Substitution

Answer 4

a mutation that replaces one base or amino acid with another

Question 5

Insertion

Answer 5

the addition of DNA, the attachment of a muscle to a bone, or the placement of something into something else

Question 6

Deletion

Answer 6

a genetic change where a section of DNA is missing

Question 7

Frameshift

Answer 7

a genetic mutation that occurs when a DNA sequence is inserted or deleted by a number of base pairs that isn’t a multiple of three

Question 8

Base substitution mutation

Answer 8

a genetic mutation that occurs when a single base in DNA is swapped for another

Question 9

Degenerate code

Answer 9

when multiple codons can code for the same amino acid

Question 10

Single nucleotide polymorphism (SNP)

Answer 10

a variation in DNA that occurs when a single nucleotide is replaced by another

Question 11

Silent mutation

Answer 11

a DNA change that doesn’t affect the amino acid sequence of a protein

Question 12

Missense mutation

Answer 12

a DNA change that replaces one amino acid with another in a gene

Question 13

Nonsense mutation

Answer 13

a genetic mutation that causes a protein to stop being made early

Question 14

Hemoglobin

Answer 14

an iron-rich protein in red blood cells that carries oxygen from the lungs to the body’s tissues and organs

Question 15

Hb gene

Answer 15

a gene that provides instructions for making beta-globin, a subunit of hemoglobin

Question 16

alleles

Answer 16

different versions of a gene that occur at the same location on a chromosome

Question 17

HbA

Answer 17

the most common type of hemoglobin in adults.It’s also known as adult hemoglobin

Question 18

HbS

Answer 18

sickle cell hemoglobin, is a genetic variation of hemoglobin that causes sickle cell anemia.

Question 19

Sickle cell disease

Answer 19

An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as long as normal red blood cells

Question 20

HTT gene

Answer 20

the gene that provides instructions for making the huntingtin protein

Question 21

trinucleotide repeat expansion

Answer 21

a genetic mutation that occurs when a series of three nucleotides in DNA is repeated too many times

Question 22

Huntington’s disease

Answer 22

a genetic brain disorder that causes nerve cells to break down over time

Question 23

CCR5 gene

Answer 23

codes for a protein that is a key part of the immune system’s response to inflammation, infection, and other conditions.It’s also a co-receptor for HIV, which uses it to enter cells.

Question 24

CCR5 receptor proteins

Answer 24

a protein that helps control the entry of HIV into cells.It’s also involved in immune responses and inflammation

Question 25

chemokines

Answer 25

proteins that signal cells to move to specific locations in the body. They are involved in the immune system, inflammation, and other biological processes

Question 26

Gene mutations

Answer 26

a permanent change to the DNA sequence of a gene

Question 27

Molecular clock

Answer 27

a tool used to estimate when species diverged from each other

Question 28

High energy (ionizing) radiation

Answer 28

a type of radiation that has enough energy to remove electrons from atoms or molecules

Question 29

Chemical mutagens (carcinogens)

Answer 29

a substance that changes DNA and increases the risk of cancer

Question 30

Euchromatin

Answer 30

a loosely packed form of chromatin that is rich in genes and is transcriptionally active

Question 31

heterochromatin

Answer 31

a densely packed form of chromatin that contains repetitive DNA sequences and is relatively inactive

Question 32

Non-coding regions

Answer 32

parts of DNA that don't code for proteins

Question 33

Mutation hotspots

Answer 33

areas of DNA that are more likely to mutate

Question 34

CpG sites

Answer 34

a DNA sequence where cytosine (C) is followed by guanine (G)

Question 35

CpG islands

Answer 35

DNA sequences that are rich in cytosine and guanine nucleotides

Question 36

Somatic cells (body cells)

Answer 36

the cells in the body that are not reproductive cells, or germ cells

Question 37

Germ cells (sex cells)

Answer 37

reproductive cells that develop into eggs and sperm

Question 38

Lactase

Answer 38

an enzyme that breaks down lactose into glucose and galactose in the small intestine