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Genetics Block 1 > Chapter 2: The Human Genome and the Chromosomal Basis of Heredity > Flashcards

Chapter 2: The Human Genome and the Chromosomal Basis of Heredity Flashcards

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Biology 101 flashcards
1
Q

hereditary material containing the genetic information

A

DNA

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2
Q
  • units of genetic information

- they are organized along the chromosomes with with precise location or locus

A

genes

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3
Q

rod-shaped structures

A

chromsomes

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4
Q

maps the chromosomal location of the genes

A

gene map

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5
Q

species specific characteristic chromosome complement (number and morphology)

A

karyotype

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6
Q

-study of chromosomal structure and inheritance

A

cytogenetics

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7
Q

-normal human chromosome number is 46

A

nuclear genome

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8
Q

-refers to all cells in the body except those of the

gamete-forming germline - most are diploid

A

Somatic Cells

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9
Q

-members of a pair of chromosomes ->

carry same subset of genes arranged linearly along its DNA

A

Homologous chromosomes

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10
Q

-one of the alternate versions of a gene or DNA sequence

at a given locus

A

alleles

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11
Q

-located in the cytoplasm, have a small chromosome

which is an important part of the human genome

A

Mitochondria

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12
Q

What is the length of the mitochondrial chromosome?

A

16kb, which is about 16,000 nucleotides

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13
Q
  • basic structural unit of chromatin

- appear as “beads on a string”

A

nucleosome

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14
Q
  • a secondary heliical chromatin structure of coiled nucleosomes appear as a thick 30-nm diameter cylindrical fiber
A

soleonoid

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15
Q

What are the components that make up the DNA structure?

A

5-carbon deoxyribosenitrogen-containing purine (or pyrimidine base) phosphate group

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16
Q

How is a nucleotide formed?

A

when a deoxyribose and a phosphate group join

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17
Q

How may DNA molecules does the nuclear genome have?

A

46 DNA molecules

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18
Q

Which histones can be post-translationally modified?

A

H3, H4

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19
Q

What percentage do satellite DNA make up of all genetic material?

A

10-15%

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20
Q

How do you find satellite DNA?

A

arrays of various short repeats organized tandemly head to tail

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21
Q

different types of tandem repeats that can be separated as a distinct fraction of DNA

A

satellite DNA

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22
Q

long arrays of satellite DNA found in genetically inert regions on chromosomes 1, 9, and 16 and more than one-half of the Y chromosome

A

pentanucleotide repeats

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23
Q

What are 3 examples of dispersed repetitive DNA?

A
  • Alu family
  • LINE
  • segmental duplications
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24
Q

What is special about the Alu family?

A

it is the best studied dispersed repetitive element

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25
Q

What is LINE?

A

a long interspersed nuclear element family composing ~20% of the genome. They are retrostransposons (copies can be integrated and cause insertional inactivation)

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26
Q

What is segmental duplication?

A

genetic rearrangements that can lead to gene deletions resulting in disease

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27
Q

Where does mitosis occur?

A

ordinary somatic cell division

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28
Q

What does mitosis result in?

A

2 diploid daughter cells with 2n chromosomes identical to parent DNA

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29
Q

Where does meiosis occur?

A

in germline cells

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30
Q

What does meiosis result in?

A

in reproductive cell gametes that are haploid/contain 23 chromosomes

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31
Q

What is interphase?

A

period of biosynthesis and growth between two mitosis; has 3 checkpoints

32
Q

What are the checkpoints of the cell cycle?

A

G1, G2, S phases

33
Q

When does G1 occur? is there synthesis of DNA?

A

after mitosis; no synthesis of DNA

34
Q

What happens in S phase?

A

chromosomes replicate to become bipartite with 2 sister chromatids

35
Q

What are telomeres?

A

in the end of each chromatid, they ensure chromosome integrity during cell division

36
Q

What is telomerase?

A

enzyme that maintains chromosome ends

37
Q

What does it mean that DNA replication is a semiconservative process?

A

it means that one strand of the double helix is directly from the parent and the other is synthesized from that

38
Q

What does the centromere do?

A

it holds the two sister chromatids together

39
Q

during what phase do chromosomes start to condense?

A

mitotic phase (M phase)

40
Q

What happens in M phase?

A

chromosomes condense and 1 chromatid of each chromosome is distributed to each daughter cell

41
Q

What are the 5 stages of Mitosis?

A

Prophase, Prometaphase, Metaphase, Anaphase, Telophase

42
Q

What happens in prophase?

A

chromosomal condensation and formation of mitotic spindle

43
Q

What happens in prometaphase?

A

nuclear membrane breaks up, chromosomes attach to microtubule in kinetochore

44
Q

What happens in metaphase?

A

maximum condensation and alignment at equatorial plane

45
Q

What happens in anaphase?

A

chromsomes separate at centromere, sister chromatids separate and are independent daughter chromosomes, they move to opposing poles

46
Q

What happens in telophase?

A

chromosomes begin to decondense, nuclear membrane begins to form

47
Q

What is euchromatin?

A

It is the C-G rich portion of chromatin; it is genetically active

48
Q

What is heterochromatin?

A

chromosomal segment that remains in interphase is mostly repetitive DNA with no genetic activity

49
Q

What are the phases of Prometaphase in Meiosis 1?

A

Leptotene, Zygotene, Pachytene, Diplotene, Diakenesis

50
Q

What are the consequences of Meiosis?

A

1) reduction of chromosome number from diploid to haploid
2) shuffling of genetic material due to random assortment of the homologues
3) additional shuffling of genetic material due to crossing over

51
Q

What is G-banding?

A

technique used to stain chromosomes; it shows the base composition and distribution of repetitive DNA elements

52
Q

What do you see in G-banding?

A

black and white alternating pattern

53
Q

What happens in Leptotene?

A

you have separated homologues, sister chromatids are very close to each other and start to condense

54
Q

What happens in zygotene?

A

sister chromatids begin to form a complex by synapsing; they line up by their entire length

55
Q

what happens in pachytene?

A

the sister chromatids are now a tetrad and undergo crossing over

56
Q

What happens in diplotene?

A

the bivalent are together, you have a chiasma which is where crossing over occured

57
Q

What happens in diakenesis?

A

the bivalents separate

58
Q

when does spermatogenesis start occuring

A

at puberty

59
Q

Where are sperm formed?

A

in seminiferous tubules of testes

60
Q

What forms spermatogonia?

A

primordial germ cells

61
Q

In the developmental stage, what is the final cell type?

A

primary spermatocyte

62
Q

What happens with the primary spermatocyte?

A

It undergoes meiosis 1, forming 2 halpod secondary spermatocytes

63
Q

What cell type of spermatogenesis undergoes meiosis 2?

A

secondary spermatocyte to form four spermatids that later form sperm

64
Q

When does oogensis occur?

A

at prenatal development

65
Q

Into what does oogonia develop and does the resulting cell undergo meiosis 1 or 2?

A

oogonia develop into primary oocyte and then undergo meiosis 1

66
Q

What happens with the primary oocytes that do not degenerate?

A

they remain in prophase 1 until menstruation

67
Q

What happens before ovulation?

A

oocyte compeltes meiosis 1 becoming a secondary oocyte and first polar body

68
Q

When does meiosis 2 proceed in oocyte?

A

after fertilzation to produce a fertilized mature ovum and second polar body

69
Q

How long is S phase?

A

6-8 hours

70
Q

How long is G1, S, G2 phase?

A

16-24 hours

71
Q

How long is mitosis?

A

1-2 hours

72
Q

Where are the most g bands? the least?

A

prophase; metaphase

73
Q

formation of the mitotic spindle

A

prophase

74
Q

nuclear membrane breaks up

A

prometaphsae

75
Q

maximal condensation

A

metaphse

Genetics Block 1 (7 decks)

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