Final

Question 1

coefficient of relatedness

Answer 1

the percent of shared genes that two individuals have. This number is between 0 and 1. It can be found by taking 1/the number of marriages the two individuals are separated by times 2. (ex. Mother and child: 1/2)

Question 2

telocentric

Answer 2

when a chromosome’s centromere is located at the terminal end of the chromosome

Question 3

acrocentric

Answer 3

when a chromosome’s centromere is located toward one end of the chromosome

Question 4

metacentric

Answer 4

when a chromosome is x-shaped. The centromere is located about equally from each telomere.

Question 5

dicentric

Answer 5

when an abnormal chromosome contains two centromeres. This is the result of two chromosome pieces attaching together

Question 6

paracentric

Answer 6

an inversion that twists the chromosome without involving the centromere. “away from the center”

Question 7

polyploidy

Answer 7

an organism having more than two paired sets of chromosomes

Question 8

tetrasomic

Answer 8

four copies, instead of two, of a chromosome

Question 9

triploid

Answer 9

having three copies of each chromosome, instead of the normal two

Question 10

haploid

Answer 10

having a single set of unpaired chromosomes

Question 11

trisomy

Answer 11

three instances of a particular chromosome, instead of the normal two (ex. trisomy 21= down syndrome)

Question 12

tetraploid

Answer 12

having four copies of having chromosome

Question 13

meiosis

Answer 13

cell division that results in four daughter cells having half the number of chromosomes that the parent did. Each genetically different from the parent

Question 14

genomic imprinting

Answer 14

the expression of one gene depends on whether it was inherited by the mother or father. Genes might be turned off if they were inherited by one or the other.

Question 15

reciprocal translocation

Answer 15

two nonhomologous chromosomes exchange parts

Question 16

epistasis

Answer 16

one gene controls the expression of a second gene

Question 17

transversion point mutation

Answer 17

a two ring purine is replaced with a single ring pyrimidine

Question 18

missense mutation

Answer 18

a type of nonsynonymous point mutation. A single base change changes the amino acid used.

Question 19

telomerase

Answer 19

an enzyme that adds nucleotides to telomeres, especially in cancer cells

Question 20

nonsense mutation

Answer 20

a point mutation that causes a stop codon to appear where it shouldn’t

Question 21

mutation

Answer 21

a change in a DNA sequence

Question 22

polymorphism

Answer 22

a genetic change that is present in more than 1% of a population

Question 23

“loss-of-function” mutation

Answer 23

recessive

Question 24

“gain-of-function” mutation

Answer 24

dominant

Question 25

germline mutations

Answer 25

originate in meiosis, affect all cells of an organism

Question 26

somatic mutations

Answer 26

originate in mitosis, affect only cells that descend from changed cell

Question 27

mitosis

Answer 27

replication of somatic cells

Question 28

mutagen

Answer 28

agent that causes a mutation

Question 29

de novo mutation

Answer 29

spontaneous, new, not caused by exposure to a known mutagen, slight chemical instability, alternating forms called tautomers

Question 30

mutation rate in autosomal dominant genes

Answer 30

number of new cases/2x, where x is the number of individuals examined

Question 31

carcinogens

Answer 31

mutagens that cause cancer

Question 32

alkylating agents

Answer 32

replace a base (mismatch)

Question 33

acridine dyes

Answer 33

add or remove bases

Question 34

radiation

Answer 34

breaks chromosomes

Question 35

uv radiation

Answer 35

creates thymine dimers

Question 36

Ames Test

Answer 36

in vitro test, tests the mutagenicity of a substance

Question 37

transition mutation

Answer 37

purine replaces purine, pyrimidine replaces pyrimidine

Question 38

transversion

Answer 38

purine replaces pyrimidine or pyrimidine replaces purine

Question 39

splice site mutations

Answer 39

alters a site where an intron is normally removed from mRNA, affects phenotype if intron is translated or exon is skipped

Question 40

frameshift mutation

Answer 40

nucleotide changes not in multiples of three, shifts the frame and therefore amino acids

Question 41

pseudogenes

Answer 41

a dna sequence similar to a gene but which is not translated, may not be transcribed into RNA, crossing over between pseudogene and functional gene can disrupt expression

Question 42

anticipation

Answer 42

each generation has a more severe phenotype with a triplet repeat (adding Amino acids in groups of 3)