Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Undeleted > Chapter 1+2 > Flashcards

Chapter 1+2 Flashcards

1
Q

What are the main 3 types of genetic disorders?

A

1) Chromosome disorders2) Single gene defects3) Multifactorial inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is a chromosome disorder?

A

gain or loss of genes in whole chromosomes or a segment of a chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is a Single Gene defects?

A

you have a single gene or individual mutant gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

How is Single Gene defects inherited?

A

Medelian Genetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is an example of a chromosome disorder?

A

Down Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is an example Single gene defects?

A

Cystic Fibrosis, Marfan Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is a Multifactorial inheritance?

A

having multiple genes mutated and how these interact with the environmental

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How are multifactorial inheritance?

A

mendelian genetics (it will be passed down in the family)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Give 3 examples of multifactorial inheritance?

A

alzheimer’s, diabetes, hypertension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

In what type of chromosomes is the human genome encoded?

A

nuclear and mitochondrial chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is DNA?

A

hereditary material containing the genetic information

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what cells have a copy of the DNA?

A

all nucleated cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is a Gene?

A

is a unit of genetic information

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what is a locus?

A

precise location of a gene in a chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what is a gene map?

A

maps the chromosomal location of all genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what is a karyotype?

A

shows the specific characteristics of the chromosomes (number and morphology)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the simplest polymorphism?

A

SNP (a change in a single nucleotide)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is cytogenetics?

A

the study of chromosomal structure and inheritance.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Chromosomes 1 through 22 are called what?

A

autosomal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

chromosome 23 is called?

A

sex chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

what is the nuclear genome?

A

is the normal human chromosomeit contains 46 total chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are somatic cells?

A

referes to all cells in the body except those in the gamete

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are homologous chromosomes?

A

are members of a pair of chromosomesthey carry the same subset of genes arranged linearly along its DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is an allele?

A

is one of the alternate versions of a gene or DNA sequence at a given locus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Does the Mitochondria have chromosomes?

A

yes, it contains a small chromosome part of the human genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What are the components that make up the DNA structure?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What specifies the specific amino acid sequence of a polypeptide chain of proteins?

A

the sequence of nucleotides in the DNA primary structure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

how is a nucleotide formed?

A

when a deoxyribose and a phosphate group join

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Mitochondrial genes exhibit what kind of inheritance?

A

maternal inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

what is chromatin?

A

is the genome packed (DNA wrapped in histones)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

how many DNA molecules does the nuclear genome have?

A

46 DNA molecules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What are the 4 core histones? (how many copies of these are there?)

A

H2A,H2B,H3,H4; there are two copies of these 4 (is a octomer complex)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is a nucleosome?

A

structural unit of chromatin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What histones can be post-translationally modified?

A

H3, H4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is the solenoid?

A

secondary helical chromatin structure of coiled nucleosomes appear as a thick cylindrical fiber.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What are the two types of DNA?

A

1) single-copy DNA2) repetitive DNA sequences

37
Q

How is single-copy DNA found?

A

short stretches interspersed with various repetitive DNA families

38
Q

How is repetitive DNA sequences found?

A

repeats clustered in one or few locations or interspersed throughout the genome

39
Q

What percent do Satellite DNA make up of all genetic material?

A

10-15%

40
Q

how do you find satellite DNA?

A

arrays of various short repeats organized tandemly head to tail.

41
Q

What is a satellite DNA?

A

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

42
Q

What are Pentanucleotide repeats?

A

are satellite DNA, long arrays found in genetically inert regions on chromosomes 1, 9, 16 and on Y

43
Q

Give 3 examples of dispersed repetitive DNA.

A

1) Alu Family
2) LINE
3) Segmental duplications

44
Q

What is so special about the Alu family?

A

that is the best studied dispersed repetitive element

45
Q

What is LINE?

A

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

46
Q

What is a segmental duplication?

A

genetic rearrangements that can lead to gene deletions resulting in disease.

47
Q

What are the two cell divisions?

A

Mitosis

Meiosis

48
Q

Where does mitosis happen?

A

ordinary somatic cell division

49
Q

What does mitosis result in?

A

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

50
Q

Where does meiosis happen?

A

in germline cells

51
Q

What does meiosis result in?

A

in reproductive cell gametes that are haploid/ contain 23 chromosomes

52
Q

What is interphase?

A

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

53
Q

What are the checkpoints of the cell cycle?

A

G1, G2, S phases

54
Q

when does G1 occur? is there synthesis of DNA?

A

after mitosis; no synthesis of DNA

55
Q

what happens in S phase?

A

chromosomes replicate to become bipartite with two sister chromatids

56
Q

What are telomeres?

A

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

57
Q

What is telomerase?

A

enzyme that maintain chromosome ends

58
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.

59
Q

What does the centromere do?

A

it holds the two sister chromatids together

60
Q

during what phase do chromosomes start to condense?

A

mitotic phase (M phase)

61
Q

What happens in M phase?

A

chromosomes condense and 1 chromatid of each chromosome moves is distributed to each daughter cell.(distributing a copy of the chromosome to each daughter cell)

62
Q

What are the 5 stages of Mitosis?

A

1) Prophase
2) Prometaphase
3) Metaphase
4) Anaphase
5) Telophase

63
Q

What happens in prophase?

A

chromosomal condensation and formation of mitotic spindle

64
Q

What happens in prometaphase?

A

nuclear membrane breaks up, chromosomes attach to microtubule in kinetochore

65
Q

What happens in metaphase?

A

maximum condensation and alignment in equatorial plane

66
Q

What happens in anaphase?

A

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

67
Q

What happens in telophase?

A

chromosomes begin to decondense, nuclear membrane begins to form

68
Q

What is euchromatin?

A

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

69
Q

what is heterocromatin?

A

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

70
Q

What are the phases of Prometaphase in Meiosis I?

A

1) Leptotene
2) Zygotene
3) Pachytene
4) Diplotene
5) Diakenesis

71
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.

72
Q

what is G-banding?

A

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

73
Q

what do you see in G-banding?

A

black and white alternating pattern

74
Q

What happens in leptotene?

A

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

75
Q

what happens in zygotene?

A

sister cromatids begin to forma complex by synapsing; they line up by their entire lenght

76
Q

what happens in pachytene?

A

the sister cromatids are now a tetrad and undergo crossing over

77
Q

what happens in diplotene?

A

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

78
Q

what happens in diakenesis?

A

bivalents separate

79
Q

when does spermatogenesis start occurring?

A

at puberty

80
Q

where are sperm formed?

A

in seminiferous tubules of testes

81
Q

what forms spermatogonia?

A

primordial germ cells

82
Q

in the development stage, what is the final cell type?

A

primary spermatocyte

83
Q

what happens with the primary spermatocyte?

A

it undergoes meiosis 1 forming 2 haploid secondary spermatocytes

84
Q

What cell type of spermatogenesis undergoes meiosis 2?

A

secondary spermatocyte to form four spermatids that later form sperm

85
Q

when does oogenesis occur?

A

at prenatal development

86
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

87
Q

what happens with primary oocytes that do not degenerate?

A

they remain in prophase 1 until menstruation

88
Q

what happens before ovulation?

A

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

89
Q

when does meiosis 2 proceed in oocyte?

A

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

Undeleted (35 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions