Chromosomal Mutations

Question 1

Types of extranuclear inheritance

Answer 1

Organelle heredity
Infectious heredity
Maternal effect

Question 2

Common theme between types of extranuclear inheritance

Answer 2

Transmission of genetic info to offspring through cytoplasm

Question 3

Endosymbiotic theory

Answer 3

mitochondria and chloroplasts developed independently about 2 billion years ago from free living protobacteria

Question 4

Are introns present or absent in mitochondria

Answer 4

absent (with very few exceptions)

Question 5

How many DNA molecules per mitochondria?

Answer 5

5-10

Question 6

mitochondria uses unique___ ribosomes for translation.

Functionally the mitochondria relies on ___ and ____ encoded genes.

Answer 6

mtDNA

Question 7

Cell Respiration produces large amounts of ____ which is toxic and mutagenic.

Answer 7

Reactive oxygen species (ROS)

Question 8

Mitochondrial replacement therapy (MRT) or 3-parent in vitro fertilization

Answer 8

nucleus from one oocyte with defective egg is removed and transferred to an enuclear egg containing normal mitochondria

Question 9

Anueploidy

Answer 9

organism gains or loses one or more chromosomes but don’t gain a complete set

Question 10

Euploidy

Answer 10

Complete haploid set of chromosomes is present

Question 11

Plolyploidy

Answer 11

more than two sets are present

Question 12

Variation in ploidy results from

Answer 12

random error during meiosis (nondisjunction) where the paired homologs fail to separate properly

Question 13

Nondisjunction is more detrimental in

Answer 13

meiosis 1 than meiosis 2

Question 14

Monosomy (2n-1)
ex- turners syndrome

Answer 14

often very detrimental if not lethal

Question 15

haploinsufficieny

Answer 15

when a single copy of a gene doesn’t produce enough function to maintain normal traits

Question 16

Haplosufficiency

Answer 16

when a single copy of a gene produces enough function to maintain normal traits

Question 17

Trisomy (2n+1)
Ex). Down Syndrome

Answer 17

Produces more viable individuals than down syndrome

Question 18

Meiosis is initiated in all eggs when she is a

Answer 18

fetus

Question 19

One egg proceeds into meiosis 2

Answer 19

during each ovulation, only completing upon fertilization

Question 20

Chromosomal Aberrations

Answer 20

Deletions, duplication, and rearrangements

Question 21

Heterozygous aberrations

Answer 21

bulges since only on one

Question 22

gene redundancy

Answer 22

multiple copies of the same gene sequences

Question 23

Gene amplifications occurs in the region of chromosome known as the

Answer 23

nuclear organizer region (NOR) where rDNA info is encoded

Question 24

NOR rDNA is is selectively replicated in ____ to _____.

Answer 24

Xenopus oocytes

generate enough template for enough rRNA generation

Question 25

Copy number variations are found in

Answer 25

coding and noncoding regions

Question 26

copy number variations can have positive and negative effects in

Answer 26

gene expression and human diseases

Question 27

Inversions

Answer 27

segments of chromosome that have been flipped within a chromosome with no loss of genetic material

Question 28

pericentric inversions

Answer 28

centromere is included in the inversion

Question 29

Paracentric inversions

Answer 29

centromere is not included in the inversion

Question 30

Inversion heterzygotes

Answer 30

One member of a homologous pair has an inverted segment must form an inversion loop to be paired in meiosis

Question 31

If crossing over occurs within the inversion loop

Answer 31

abnormal chromatids are produced

Question 32

SCO event within paracentric inversion results in

Answer 32

recombinant dicentric chromatid and one recombinant acentric chromatid (lacking a centromere)

Question 33

Translocation

Answer 33

movement of a chromosomal segment to a new location

Question 34

Reciprocal translocation

Answer 34

exchange of segments without loss of genetic information

Question 35

Heterozygous translocations result in

Answer 35

altered synapsis during meiosis

Question 36

Fragile sites

Answer 36

succeptible to breakage

Question 37

Fragile- X syndrome

Answer 37

folate sensitive sites on X chromosome