Variation chromosome structure & number 4

Question 1

What are the types of chromosome mutations?

Answer 1

1. Deletion
2. Duplication
3. Inversions
4. Translocation

Question 2

Deletion

Answer 2

Segment of chromosomal material is missing (deficiency is the term used to describe a missing region of a chromosome)

Question 3

Duplication

Answer 3

Section of a chromosome is repeated more than once within the chromosome

Question 4

Inversion

Answer 4

Involves a change in the direction of the genetic material along a single chromosome

Question 5

Translocation

Answer 5

Occurs when one segment of a chromosome becomes attached to a different chromosome or to a different part of the same chromosome

Question 6

Simple Translocation

Answer 6

Occurs when a single piece of chromosome is attached to another chromosome (1-way transfer)

Question 7

Reciprocal translocation

Answer 7

Two different chromosomes exchange pieces, thereby altering both of them (2-way transfer)

Question 8

________ & _________ are changes in the total amount of genetic material in a single chromosome

Answer 8

Duplication & deletions

Question 9

_________ & ________ are chromosomal rearrangements

Answer 9

Inversions & translocation

Question 10

Deletion you _______ genetic material & duplication you ______ genetic material

Answer 10

Lose, gain

Question 11

Loss of genetic material due to deletion tends to be ________ to an individual phenotype

Answer 11

Harmful

Question 12

A chromosomal _______ occurs when a chromosome breaks in one or more places & a fragment of the chromosome is lost & degraded

Answer 12

Deletion

Question 13

_________ can also occur when recombination takes place at the wrong spot between two homologous chromosomes where the product is one chromosome has deletion & other has duplication

Answer 13

Deletion

Question 14

The phenotype consequences of deletions depends on the __________ and whether or not essential genes were lost (which would be most harmful)

Answer 14

Size deleted

Question 15

__________ syndrome is a result of deletion in the short arm in chromosome 5

Answer 15

Cri-du-chat syndrome

Question 16

Terminal deletion

Answer 16

When an end piece is deleted

Question 17

Interstitials(internal) deletion

Answer 17

Occurs when 2 places in between is lost

Question 18

__________ can created a new gene

Answer 18

Interstitial deletion

Question 19

_________ tends to have less harmful phenotype consequences than deletions

Answer 19

Duplication

Question 20

_________ results in extra genetic material

Answer 20

Duplication

Question 21

Repetitive sequences

Answer 21

Sequences that occur multiple times

Question 22

Nonallelic homologous recombination

Answer 22

When a crossover occurs at homologous sites (repetitive sequences) but the site is not alleles of the same gene

Question 23

____________ results in one chromatid having an internal duplication & the other chromatid has a deletion

Answer 23

Nonallelic homologous recombination

Question 24

Gene duplication

Answer 24

Occurs when a gene increase in number like when there two C genes on a chromosome

Question 25

The phenotype consequences of duplication depends on the _________ duplicated whereas its likely to have an effect on the phenotype if large amounts are duplicated & has bad recombination

Answer 25

Amount

Question 26

____________ disease is a result of duplication in the short arm of chromosome 17

Answer 26

Chariot- marie tooth disease

Question 27

_____________ usually don't result in phenotype consequence

Answer 27

Inversion

Question 28

A chromosome with an _______ contains a segment that has been flipped so it runs in the opposite direction

Answer 28

Inversion

Question 29

Inversion are classified by the location of the _________

Answer 29

Centromere

Question 30

Pericentric inversion

Answer 30

If the centromere is within the inverted region of the chromosome

Question 31

Paracentric inversion

Answer 31

If the centromere is found outside the inverted region

Question 32

When a chromosome goes through ________ the total amount of genetic material is the same (why it doesn't have phenotype consequences)

Answer 32

Inversion

Question 33

Position Effect

Answer 33

Is a change in phenotype that occurs when the position of a gene changes from one location to another (cause by inversion)

Question 34

The position effect results in a change of ___________

Answer 34

Gene expression

Question 35

Translocation

Answer 35

Involves exchange between different chromosomes

Question 36

__________ is when a piece from one chromosome is attached to another chromosome

Answer 36

Translocation

Question 37

Translocation also involves ______________ where DNA breaks & a bad repair is resulted (has bad crossing over & non homologous)

Answer 37

Two break (2 - way transfer)

Question 38

Reciprocal translocation

Answer 38

When two nonhomologous chromosomes cross over

Question 39

________ & _______ change the number of chromosomes

Answer 39

Aneuploidy & Euploidy

Question 40

Aneuploidy

Answer 40

Change the number of specific chromosomes

Question 41

Euploidy

Answer 41

Change in the number of complete sets of chromosomes

Question 42

If an euploid variation occurred it will end in ______

Answer 42

"ploid" (ex. triploid, tetraploid)

Question 43

If an aneuploidy variation occurred then it will end in _______

Answer 43

"somy" (ex. trisomy (2n+1), monosomy (2n-1))

Question 44

____________ causes an imbalance in gene expression which can have harmful consequences on the phenotype

Answer 44

Aneuploidy

Question 45

What are the most common trisomies?

Answer 45

Trisomy in chromosome 13, 18, 21

Question 46

Aneuploidy & euploidy occurs during _______ by congenital where 50% of miscarriage occur & low survival rate at birth

Answer 46

Meiosis ( 1 or 2)

Question 47

Aneuploidy of _______ is less serve due to X-inactivation the extra X-chromosome is turned off

Answer 47

Sex chromosome

Question 48

______________ in chromosome are influenced by the age of the parents(mostly the female) where the older the parents (mostly the mom) is more likely to produce children with abnormalities in chromosome number (ex. down syndrome)

Answer 48

Human abnormalities

Question 49

Down syndrome is due to _________

Answer 49

Trisomy 21 (3 chromosomes in chromosome number 21)

Question 50

Down syndrome has 15x chance of ________

Answer 50

Leukemia

Question 51

_________/________ in older women trying to have kids may be benetifical because the body may not be ready or maybe be risky for the mother & child

Answer 51

Aneuploidy/ Miscarriage

Question 52

Down syndrome is cause by ____________ in chromosome 21 during meiosis 1

Answer 52

Nondisjunction

Question 53

What is another explanation of down syndrome?

Answer 53

That the female egg are the rest in prophase of meiosis 1 for a long time & the extra time may be contributing to an increased frequency in nondisjunction

Question 54

Diploid animals are ______ & if the number of chromosomes is greater than 2n than its polyploid & can be lethal (exception are female bees (diploid 2n) & male bees (monoploid 1n)

Answer 54

2n

Question 55

There is 8n cells in the liver because why?

Answer 55

They have detoxification proteins

Question 56

Nondisjunction

Answer 56

Chromosomes don't segregate properly

Question 57

Meiotic nondisjunction

Answer 57

Can produce cells that have too many or too few chromosomes

Question 58

Nondisjunction happens in meiosis at ___________

Answer 58

Anaphase 1 or 2

Question 59

Nondisjunction in meiosis 1 yields _____ bad haploid cells & nondisjunction in meiosis 2 yields _____ bad haploid cells (Aneuploidy)

Answer 59

4, 2

Question 60

Complete nondisjunction

Answer 60

When all of the chromosomes undergo nondisjunction & move to one of the daughter cell where the results is a diploid cell & a cell without any chromosomes (euploidy)