Part K: Lecture 43

Question 1

four major types of chromosome rearrangements (CR)

Answer 1

-deletion
-duplication
-inversion
-translocation

Question 2

CR that involve 1 chromosome

Answer 2

-deletion
-duplication
-inversion

Question 3

CR that involve 2 chromosomes

Answer 3

-translocation

Question 4

types of deletion

Answer 4

terminal deletion
interstitial deletion

Question 5

terminal deletion (def.)

Answer 5

deletion at the end of the chr

Question 6

interstitial deletion (def.)

Answer 6

deletion in the middle of the chr

Question 7

types of duplication

Answer 7

tandem duplication
insertional duplication

Question 8

tandem duplication

Answer 8

duplicated region next to org. region

Question 9

insertional duplication

Answer 9

duplicated region inserted somewhere else on chr

Question 10

types of inversion

Answer 10

pericentric inversion
paracentric inversion

Question 11

pericentric inversion

Answer 11

-around centromere
-inverted region has centromere

Question 12

paracentric inversion

Answer 12

-beside centromere
-inverted region doesn’t have centromere

Question 13

types of translocation

Answer 13

reciprocal translocation
robertsonian translocation

Question 14

reciprocal translocation vs robertsonian translocation: which is more common?

Answer 14

reciprocal translocation

Question 15

reciprocal translocation

Answer 15

2 chr swap = result: two chr

Question 16

robertsonian translocation

Answer 16

2 smaller chr swap = result: 1 larger chr + lost fragment

Question 17

NAHR stands for ___

Answer 17

non-allelic homologous recombination

Question 18

NAHR method

Answer 18

TE inserted in new location ->crossovers at the wrong location -> chr. rearrangement

Question 19

unbalanced rearrangements are ___. which is less harmful?

Answer 19

deletion + duplications
duplications

Question 20

can a person be homozygous for deletion?

Answer 20

deletion contains essential genes then homozygous for deletion = non-viable

Question 21

can a person be heterozygous for large deletion?

Answer 21

deletion > 10 Mb =non-viable

Question 22

terminal deletions have how many break point?

Answer 22

one (1)

Question 23

balanced rearrangements are ___ because ___

Answer 23

inversions and translocation
they change the location but not number of genes

Question 24

inversions have how many break point?

Answer 24

two (2)

Question 25

ancient inherited mutation result

Answer 25

all humans have the mutation

Question 26

inherited mutation result

Answer 26

many people have the mutation

Question 27

germline mutation result

Answer 27

all the offspring’s cells have the mutation

Question 28

somatic mutation result

Answer 28

some of a person’s cells have the mutation