The Chromosomal Basis of Inheritance Flashcards

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1
Q

Mutations

A

Heritable changes in genetic information

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2
Q

How many main groups of mutations are there

A

2

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3
Q

What are the two main groups of mutations

A

Chromosomal mutations and gene mutations

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4
Q

Gene mutations

A

Changes/mistakes in a single gene

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5
Q

What is a synonym of gene mutations

A

Point mutations

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6
Q

Point Mutations

A

Genie mutations that involves changes in one or a few nucleotides

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7
Q

How many types of gene mutations are there

A

3

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8
Q

What are the three types of gene mutations

A

Substitutions deletions and insertions

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9
Q

When did gene mutations generally occur

A

Replication

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10
Q

Substitutions

A

Mutation in which one bases change to another base usually affects only one amino acid or has no effect at all

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11
Q

What is an example of a Disease caused by a substitution

A

Sickle cell disease

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12
Q

What is sickle cell disease caused by

A

One mismatched base which changes one amino acid

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13
Q

Insertions

A

Point mutations in which one base is added to the sequence these are generally worse because they change all of the amino acids formed by groups of three after the base that is inserted

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14
Q

Deletions

A

Point mutations in which one bases taken away from the sequence

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15
Q

What are insertions and deletions also known as

A

Frameshift mutations

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16
Q

Frameshift mutation

A

Mutations that shift the reading frame of the genetic message
these alter every amino acid to follow the point of mutation and therefore proteins

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17
Q

Chromosomal mutations

A

Mutations that involve changes in the number location and structure of chromosomes they can also affect the number of copies of genes

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18
Q

Where do chromosomal mutations usually occur

A

Crossing over in prophase

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19
Q

How many types of chromosomal mutations are there

A

4

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20
Q

What are the four types of chromosomal mutations

A

Deletions duplications inversions translocation

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21
Q

Deletions (chromosomal mutations)

A

Loss of all or part of a chromosome (one or more genes)

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22
Q

Duplication

A

Duplication of all or part of a chromosome (one or more genes)

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23
Q

Inversion

A

Has the same amount of genes but they are in a different order (can be portion or the whole chromosome)

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24
Q

Translocation

A

When a part of a chromosome switches (in crossing over) with a non-homologous chromosome

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25
Q

How are mutations beneficial

A

Mutations are key to evolution and are a source of genetic variation

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26
Q

How can genetic material be altered

A

Buy natural events or artificial means

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27
Q

How can mutations affect organisms

A

Mutations can be beneficial harmful or helpful and can also affect a species or even a whole ecosystem

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28
Q

Mutagens

A

Chemical or physical agents in the environment that cause mutations generally these are not good or bad

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29
Q

Polyploidy

A

When an organism has more than 2 sets of chromosmes

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30
Q

What can polyploidy result in

A

Triploid (3n) or tetraploid organisms (4n) etc. etc.

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31
Q

What is polyploidy a result of

A

Usually a result of not separating chromosomes in meiosis or no cytokinesis

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32
Q

Is polyploidy beneficial or harmful

A

Harmful to animals but beneficial to plants because it makes them stronger

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33
Q

Chromosome Theory of Inheritance

A

genes are located at specific positions (loci) on chromosomes and that the behavior of chromosomes during meiosis accounts for inheritance patterns

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34
Q

Thomas Hunt Morgan

A

Analyzed the behavior of two alleles of a fruit fly eye color gene

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35
Q

what did Thomas Hunt morgan mate

A

Morgan mated a wild-type (red-eyed) female with a mutant white eyed male fruit flies

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36
Q

Drosophila melanogaster

A

common fruit fly

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37
Q

why did Morgan use fruit flies

A

bc each mating produces hundreds of offsprings and they have the same chromosomes as humans

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38
Q

sex linked genes

A

A gene located on either sex chromosome

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39
Q

which sex chromosome has most of the genes on it and why

A

X bc both males and females have it

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40
Q

who is more likely to exhibit sex linked traits and why

A

males because they only need one copy of the gene bc they only have one of each chromosome so even if its recessive there’s not another chromosome to cancel out the other one

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41
Q

Who determines the gender of a child

A

father

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42
Q

In a Z-W chromosome system who determines the gender of the child

A

mother

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43
Q

In a X-O chromosome system who determines the gender of the child

A

the male

44
Q

In a X-O chromosome system what is the genotype of the male and the female

A

male:XO
female:XX

45
Q

In a Z-W system what is the gender of the male and the female?

A

male: ZZ
female: ZW

46
Q

In a halpoid diploid system which is female and which is male

A

male: haploid
female: diploid

47
Q

what kind of chromosome system do bees have

A

haploid diploid

48
Q

sex linked recessive disorders are more common in what

A

in males

49
Q

Parents pass down the genes for red-green color vision deficiency through the ___ chromosome

A

X

50
Q

If a sex linked disorder is found on the x chromosome can boys get them from their dads

A

no bc they only pass down the Y

51
Q

Parents pass down the genes for Duchenne muscular dystrophy through the ___ chromosome

A

x

52
Q

Parents pass down the genes for hemophilia through the ___ chromosome

A

X

53
Q

Duchenne muscular dystrophy

A

A human genetic disease caused by a sex-linked recessive allele; characterized by progressive weakening and loss of muscle tissue

54
Q

Hemophilia

A

absence of one or more blood-clotting proteins; characterized by excessive bleeding following injury

55
Q

X inactivation in female mammals

A

one of the x chromosomes of females deactivates in embryogenesis

56
Q

Barr body

A

super dense inactive X chromosome

57
Q

Does the process of X inactivation happen to a specific X chromosome and if so which one

A

no its random

58
Q

Where is the Barr Body located

A

nuclear envelope

59
Q

XIST stands for

A

X-inactive specific transcript

60
Q

how do x chromosomes turn into barr bodies

A

By the processes of methylation (of the histones), the X chromosome barr body turns itself off, codes for methyl groups to cover chromosomes (RNA polymerase covers, turning off genes)

61
Q

X-inactive specific transcript

A
62
Q

linked genes

A

genes located close enough together on a chromosome that they tend to be inherited togethter

63
Q

Nondisjunction

A

An error in meiosis or mitosis in which members of a pair of homologous chromosomes or a pair of homologous chromosomes or a pair of sister chromatids fail to separate properly from each other

64
Q

what types of disorders does nondusjunction cause

A

aneuploidy, trisomy, monosomy, polyploidy

65
Q

Aneuploidy

A

abnormal # of chromosomes

66
Q

Trisomy

A

diploid cell with 3 copies of a chromosomes

67
Q

Monosomy

A

when a diploid cell has 1 chromosome instead of 2

68
Q

Down Syndrome

A

A human genetic disease usally caused by the presence of an extra chromosme 21; characterized by developmental delays and heart and other defeats that are generally treatable or non-life-threat

69
Q

Klinefelter Syndrome genotype

A

XXY

70
Q

Klinefelter Syndrome characteristics

A

Extra X chromosome; sterility, big boobies small dick

71
Q

Superman disorder genotype

A

XYY

72
Q

Superman disorder

A

lots of testosterone js ore male type shi

73
Q

XXX Females

A

Extra X chromosmes; no unusal physical features, risk for learning disabilites, but fertile

74
Q

Turner Syndrome genotype

A

XO

75
Q

Turner Syndrome Characteristics

A

Only known viable monosomy in humans, phenotypically female, sterile because their sex organs do not mature. Normal inteligence

76
Q

Cri-du-chat cause

A

deletion in chromosmes 5

77
Q

Cri-du-Chat

A

a child born with the deletion is severely intellectually disabled, with unusual facial features and has a cry like a distressed cat. infants die in infancy or early childhood

78
Q

Chronic Myelogenous Leukemia caused by

A

the exchange of a large portion of chromosome 22 with a fragment of chromosme 9

79
Q

Chronic Myelogenous Leukemia characteristics

A

cancer of white blood cells

80
Q

What do translocation, inversion, duplication, and deletion of the chromosme often lead to

A

abortion

81
Q

in what stage of meiosis and mitosis does nondisjunction occur in

A

anaphase

82
Q

mosaicism

A

when (like the cat) you can see a bunch of different colors because in different cells different x chromosomes are inactivated and therefore you see different traits expressed in different areas

83
Q

nondisjunction in meios will affect what types of cells

A

zygotes

84
Q

nondisjunction in mitosis will affect what types of cells

A

somatic cells

85
Q

genomic imprinting is dependent on what

A

which parents

86
Q

genomic imprinting

A

moms and dads imprint chromosomes differently (even if its the same gene) which affects expression in children differently because the parents with methylate chromosomes at different spots in a gene

87
Q

prader Willi Syndrome and angelman syndrome cause

A

deletion of chromosome 15

88
Q

re-imprinting in offspring

A

Duirng methylation imprint chromosomes to make all your genes when making your own gametes

89
Q

methylation

A

Methyl (-CH3) groups are added to the cytosine nucleotides of one of the alleles. Methylation can silence or activate the expression of an allele

90
Q

myopathy

A

disorder of mitochondria in which not a lot of ATP is produced so there can be a range of bad effects for different people which can include lethargy, weakness, etc.

91
Q

genetic recombination

A

General term for the production of offspring with combinations of traits that differ from those found in other parents

92
Q

linked genes are..

A

more likely to get inherited together because they are closer together on chromosomes

93
Q

if the recomibination frequency is lower describe the location of genes on a chromosome relative to one another

A

they are closer together and harder to separate

94
Q

if the recomibination frequency is higher describe the location of genes on a chromosome relative to one another

A

they are further apart and easier to separate

95
Q

recombination frequency

A

measure of how often genetic material is exchanged between chromosomes during meiosis

96
Q

what is the recombination frequency of 2 genes on different chromosomes and why

A

50% bc when genes are far from each other there’s lots of possibilities and recombination happens 2-3 times so it could go back and forth

97
Q

if there is a higher recombination frequency what does that mean

A

there is a higher chance for recombination bc there’s more area to cross over

98
Q

what is the significance of Morgan’s experiment with gray and normal wings crossed with black vistigial wings

A

the numbers were completely different from mendelian numbers and led to the discovery of linked genes

99
Q

what is the significance of Morgan’s experiment with red and white eyes

A

they were different from mendelian numbers and led to the discovery of sex linked genes bc mostly only males had red eyes

100
Q

linkage map

A

map that shows how close genes are and how likely they are to be inherited together

101
Q

if 2 genes are on the same chromosomes what is the chance of them being inherited and why

A

50 bc of crossing over

102
Q

cytological map

A

More detailed locus of gene; done by staining patterns on chromosome

103
Q

if there is a higher frequency is the distance between the chromosomes bigger or smaller

A

bigger

104
Q

map units

A

a unit of measurement of the distance between genes

105
Q

one map unit is equal to a ___ recombination frequency

A

1%