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Biology 2311 > Chapter 13- PowerPoint > Flashcards

Chapter 13- PowerPoint Flashcards

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1
Q

Where is lamin A located?

A

inner surface of nuclear envelope/membrane

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2
Q

What did Mickey Hayes and Fransie Geringer have?

A

progeria

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3
Q

What is progeria?

A

genetic disease that causes premature aging

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4
Q

What causers progeria?

A

error in lamin A

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5
Q

What does lamin A do?

A

reinforces the inner surface of the nuclear envelope in animal cells

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6
Q

What is the average life expectancy of someone with progeria?

A

13 yrs

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7
Q

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

A

Drosophila melanogaster

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8
Q

What happened in the “Fly room”?

A

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

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9
Q

What organism has contributed to many important biological studies?

A

fruit flies

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10
Q

What was Thomas Hunt Morgan’s experiment?

A

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).

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11
Q

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

A

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

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12
Q

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

A

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

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13
Q

What is genetic recombination?

A

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

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14
Q

What is the frequency of recombination a function of?

A

distance between linked genes

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15
Q

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

A

the greater the chance they will be inherited together

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16
Q

What is recombination frequency?

A

the percentage of testcross progeny that are recombinants.

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17
Q

What is a recombinant?

A

genes not identical to a testcross in any of the parents

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18
Q

What is a linkage map?

A

map of a chromosome showing relative locations of genes.

tells you location of genes on a chromosome

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19
Q

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

A

recombination frequency of 1%

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20
Q

What is progeny?

A

offspring

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21
Q

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

A

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

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22
Q

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

A

yes, by testing their linkage to one or more genes

that lie between them.

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23
Q

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

A

yes

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24
Q

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

A

Autosomal recessive
Autosomal dominant
X-linked recessive

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25
Q

How many pair of autosomes do humans have?

A

22 paris

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26
Q

How many pairs of sex chromosomes do humans have?

A

1 pair

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27
Q

What is pedigree analysis used for?

A

track inheritance patterns in families

28
Q

What is an example of a dominant pedigree?

A

juvenile glaucoma

29
Q

What is juvenile glaucoma? When does this trait occur?

A
  • Disease causes degeneration of optic nerve leading to blindness
  • Dominant trait appears in every generation
30
Q

What should you keep your eye pressure below?

A

19

31
Q

In autosomal dominate inheritance what occurs? (3)

A 
- Heterozygotes exhibit the
affected phenotype.
- Males and females are
equally affected and may
transmit the trait.
- Affected phenotype does
not skip generation.
32
Q

What disease is autosomal dominate inheritance?

A

achondroplasia

33
Q

What occurs in autosomal recessive inheritance? (3)

A 
- Heterozygotes carry the
recessive allele but
exhibit the wildtype
phenotype.
- Males and females are
equally affected and
may transmit the trait.
- May skip generations.
34
Q

What disease is autosomal recessive inheritance?

A

albinism

35
Q

What is albinism?

A

pigment melanin is not produced

36
Q

What is the allele responsible for albinism?

A

nonfunctional allele of the enzyme tyrosinase

37
Q

Does albinism affect males and females equally?

A

yes

38
Q

Do most affected individuals of albinism have unaffected parents?

A

yes

39
Q

What disease is autosomal recessive inheritance?

A

phenylketonuria (PKU)

40
Q

What does a double line in a pedigree mean?

A

mating between first cousins

41
Q

Where are sex-linked genes located?

A

sex chromosomes

42
Q

Which is the homogametic sex?

A

XX females

43
Q

Which is the heterogametic sex?

A

XY males

44
Q

Are genes inherited differently in males and females?

A

yes

45
Q

What does homogametic sex mean?

A

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

46
Q

What is heterogametic sex?

A

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

47
Q

In duchenne muscular dystrophy what is special about it?

A

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

48
Q

What type of trait is hereditary enamel hypoplasia?

A

x-linked dominate trait

49
Q

Which genders does hereditary enamel hypoplasia effect?

A

both males and females

50
Q

Where is the SRY gene is located?

A

Y chromosome

51
Q

Where is the SRY gene is located?

A

Y chromosome

52
Q

What role does the SRY gene play?

A

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

53
Q

What do the hormones from the testes cause?

A

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

54
Q

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

A

yes

55
Q

What are chromosomal mutations?

A

changes in chromosome structure or chromosome number

56
Q

When does changes in chromosomes structure occur?

A

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

57
Q

When does changes in chromosomes number occur?

A

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

58
Q

What is deletion?

A

A segment is lost from a chromosome

59
Q

What is duplication?

A

A segment is broken from one chromosome and

inserted into its homolog, adding to the ones already there

60
Q

What is translocation?

A

A segment is attached to a different, nonhomologous chromosome

61
Q

What is inversion?

A

A segment reattaches to the same chromosome, but

in reversed orientation – the order of genes is reversed

62
Q

What are aneuploids?

A

Individuals with extra or missing chromosomes

63
Q

What are euploids?

A

individuals with a normal set of chromosomes

64
Q

What can nondisjunction result in

A

aneuploids

65
Q

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

A

embryos will develop abnormally so they

naturally abort

66
Q

What is Down syndrome?

A

characterized by short

stature and moderate to severe mental retardation

67
Q

What is Down syndrome caused by? risk factor?

A

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

Biology 2311 (16 decks)

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