Chapter 13- PowerPoint

Question 1

Where is lamin A located?

Answer 1

inner surface of nuclear envelope/membrane

Question 2

What did Mickey Hayes and Fransie Geringer have?

Answer 2

progeria

Question 3

What is progeria?

Answer 3

genetic disease that causes premature aging

Question 4

What causers progeria?

Answer 4

error in lamin A

Question 5

What does lamin A do?

Answer 5

reinforces the inner surface of the nuclear envelope in animal cells

Question 6

What is the average life expectancy of someone with progeria?

Answer 6

13 yrs

Question 7

What was cultivated by Thomas Hunt Morgan at Columbia University in 1909?

Answer 7

Drosophila melanogaster

Question 8

What happened in the “Fly room”?

Answer 8

Thomas Hunt Morgan made important discoveries in genetics, including sex-linked genes and sex linkage

Question 9

What organism has contributed to many important biological studies?

Answer 9

fruit flies

Question 10

What was Thomas Hunt Morgan’s experiment?

Answer 10

crossed a true-breeding fruit fly with normal red eyes and normal wings (pr+pr+vg+vg+) with a fly with recessive purple eyes and vestigial wings (prprvgvg).

Question 11

What were the results of Thomas Hunt Morgan’s experiment?

Answer 11

high number of parental phenotypes and a low number of recombinant phenotypes.

Question 12

What is the significance of Thomas Hunt Morgan’s experiment?

Answer 12

pr and vg are physically associated on the same chromosome and that the behavior of these linked genes is due to chromosome recombination.

Question 13

What is genetic recombination?

Answer 13

process in which two homologous chromosomes exchange segments with each other by crossing- over during meiosis.

Question 14

What is the frequency of recombination a function of?

Answer 14

distance between linked genes

Question 15

What does the closer two genes are to each other mean?

Answer 15

the greater the chance they will be inherited together

Question 16

What is recombination frequency?

Answer 16

the percentage of testcross progeny that are recombinants.

Question 17

What is a recombinant?

Answer 17

genes not identical to a testcross in any of the parents

Question 18

What is a linkage map?

Answer 18

map of a chromosome showing relative locations of genes.

tells you location of genes on a chromosome

Question 19

What is a map unit (mu) or centimorgan (cM) is equivalent to?

Answer 19

recombination frequency of 1%

Question 20

What is progeny?

Answer 20

offspring

Question 21

Genes that are widely separated on a chromosome are so likely to?

Answer 21

undergo recombination that no linkage is detected between them – the genes assort independently.

Question 22

Can Linkage between such widely separated genes can still be detected? if so how?

Answer 22

yes, by testing their linkage to one or more genes

that lie between them.

Question 23

Do some of the genes Mendel studied assort independently, even though they are on the same chromosome?

Answer 23

yes

Question 24

What are the most common modes of inheritance? (3)

Answer 24

Autosomal recessive
Autosomal dominant
X-linked recessive

Question 25

How many pair of autosomes do humans have?

Answer 25

22 paris

Question 26

How many pairs of sex chromosomes do humans have?

Answer 26

1 pair

Question 27

What is pedigree analysis used for?

Answer 27

track inheritance patterns in families

Question 28

What is an example of a dominant pedigree?

Answer 28

juvenile glaucoma

Question 29

What is juvenile glaucoma? When does this trait occur?

Answer 29

- Disease causes degeneration of optic nerve leading to blindness - Dominant trait appears in every generation

Question 30

What should you keep your eye pressure below?

Answer 30

19

Question 31

In autosomal dominate inheritance what occurs? (3)

Answer 31

``` - Heterozygotes exhibit the affected phenotype. - Males and females are equally affected and may transmit the trait. - Affected phenotype does not skip generation. ```

Question 32

What disease is autosomal dominate inheritance?

Answer 32

achondroplasia

Question 33

What occurs in autosomal recessive inheritance? (3)

Answer 33

``` - Heterozygotes carry the recessive allele but exhibit the wildtype phenotype. - Males and females are equally affected and may transmit the trait. - May skip generations. ```

Question 34

What disease is autosomal recessive inheritance?

Answer 34

albinism

Question 35

What is albinism?

Answer 35

pigment melanin is not produced

Question 36

What is the allele responsible for albinism?

Answer 36

nonfunctional allele of the enzyme tyrosinase

Question 37

Does albinism affect males and females equally?

Answer 37

yes

Question 38

Do most affected individuals of albinism have unaffected parents?

Answer 38

yes

Question 39

What disease is autosomal recessive inheritance?

Answer 39

phenylketonuria (PKU)

Question 40

What does a double line in a pedigree mean?

Answer 40

mating between first cousins

Question 41

Where are sex-linked genes located?

Answer 41

sex chromosomes

Question 42

Which is the homogametic sex?

Answer 42

XX females

Question 43

Which is the heterogametic sex?

Answer 43

XY males

Question 44

Are genes inherited differently in males and females?

Answer 44

yes

Question 45

What does homogametic sex mean?

Answer 45

produce only one type of gamete (X) with respect to the sex chromosomes

Question 46

What is heterogametic sex?

Answer 46

produce two types of gametes (X and Y) with respect to the sex chromosomes

Question 47

In duchenne muscular dystrophy what is special about it?

Answer 47

it only affects males, it means that it is an X-linked recessive trait

Question 48

What type of trait is hereditary enamel hypoplasia?

Answer 48

x-linked dominate trait

Question 49

Which genders does hereditary enamel hypoplasia effect?

Answer 49

both males and females

Question 50

Where is the SRY gene is located?

Answer 50

Y chromosome

Question 51

Where is the SRY gene is located?

Answer 51

Y chromosome

Question 52

What role does the SRY gene play?

Answer 52

When the SRY gene becomes active, parts of these structures develop as testes

Question 53

What do the hormones from the testes cause?

Answer 53

tissues for female structures to degenerate and tissues for male structures to develop

Question 54

In early in embryonic development, are structures that give rise to reproductive organs are the same in XX and XY embryos?

Answer 54

yes

Question 55

What are chromosomal mutations?

Answer 55

changes in chromosome structure or chromosome number

Question 56

When does changes in chromosomes structure occur?

Answer 56

when the DNA breaks – the broken fragments may be lost, or attach to the same or different chromosomes

Question 57

When does changes in chromosomes number occur?

Answer 57

addition or loss of one or more chromosomes, or entire sets of chromosomes

Question 58

What is deletion?

Answer 58

A segment is lost from a chromosome

Question 59

What is duplication?

Answer 59

A segment is broken from one chromosome and | inserted into its homolog, adding to the ones already there

Question 60

What is translocation?

Answer 60

A segment is attached to a different, nonhomologous chromosome

Question 61

What is inversion?

Answer 61

A segment reattaches to the same chromosome, but | in reversed orientation – the order of genes is reversed

Question 62

What are aneuploids?

Answer 62

Individuals with extra or missing chromosomes

Question 63

What are euploids?

Answer 63

individuals with a normal set of chromosomes

Question 64

What can nondisjunction result in

Answer 64

aneuploids

Question 65

In humans, what does the addition or loss of an autosomal chromosome generally causes?

Answer 65

embryos will develop abnormally so they | naturally abort

Question 66

What is Down syndrome?

Answer 66

characterized by short | stature and moderate to severe mental retardation

Question 67

What is Down syndrome caused by? risk factor?

Answer 67

nondisjunction of chromosome 21, primarily in women, and increases with maternal age