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advanced genetics Flashcards

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Biology 101 flashcards
1
Q

who developed the principles of inheritance

A

gregor mendel

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2
Q

gregor mendel performed an experiment using _____

A

pea plants

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3
Q

how many crosses did gregor mendel perform

A

5,000 crosses

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4
Q

how many features were expressed when two different purebred varieties of pea plants were crossed?

A

one feature

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5
Q

when mendel self-fertilized the offspring, the resulting progeny expressed two different traits in a ratio of ___

A

3:1 (tall:short)

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6
Q

organisms have discrete factors that determine its features

A

genes

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7
Q

organism possess two versions of each factor (gene)

A

alleles

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8
Q

mendel’s conclusions

A
  • organisms have discrete factors that determine its features - gene
  • organism possess two versions of each factor - alleles
  • each gamete conains only one version of each factors - haploid
  • parents contribute equally to the inheritance of offspring - fusion
  • one version is dominant over the other
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9
Q

each gamete contains only one version of each factor

A

haploid

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10
Q

parents contribute equally to the inheritance of an offspring

A

fusion

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11
Q

for each factor, one version is ____ over another and will be completely expressed if present

A

dominant

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12
Q

mendel’s laws

A
  • law of segregation
  • law of independent assortment
  • principle of dominance
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13
Q

when gametes form, alleles are separated so that each gamete carries only one allele for each gene

A

law of segragation

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14
Q

segragation of alleles for one gene occurs independently to that of any other gene

A

law of independent assortment

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15
Q

recessive alleles will be masked by dominant alleles

A

principle of dominance

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16
Q

correlated to mendel’s conclusion about genes to the behavior of chromosomes during mitosis and meiosis

A

chromosome theory of inheritance (sutton & boveri, 1902)

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17
Q

chromosome theory of inheritance (sutton & boveri, 1902)

A
  • chromosomes are in pairs
  • homologous chromosomes separate during meiosis
  • meiotic products have one of each homologous chromosome but not both
  • fertilization restores the pair of chromosomes
  • genes are located on chromosomes
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18
Q

haploid sex cells formed by the process of meiosis

A

gametes

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19
Q

males produce sperm and females produce ova

A

gametes

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20
Q

during _____, homologous chromosomes are separated into different nuclei prior to cell division

A

meiosis i

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21
Q

gametes are ______, meaning they only possess one allele for each gene

A

haploid

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22
Q

types of zygosity

A

homozygous, heterozygous, hemizygous

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23
Q

AA or aa, alleles are the same

A

homozygous

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24
Q

Aa, alleles are different

A

heterozygous

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25
Q

A, only one allele

A

hemizygous

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26
Q

when male and female gametes fuse during fertilization, how many alleles will the resulting zygote have?

A

two alleles for each gene

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27
Q

which sex chromosome, as there aren’t paired, only have one allele?

A

male, XY chromosome

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28
Q

gene composition for a specific trait; allele combination

A

genotype

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29
Q

either homozygous or heterozygous

A

genotype

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30
Q

observable characteristics of a specific trait

A

phenotype

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31
Q

phenotype is determined by

A

genotype and environmental influences

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32
Q

monohybrid cross determines the allele combinations for potential offspring for one gene only

A

punnett grids

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33
Q

modes of inheritance

A
  • complete dominance
  • incomplete dominance
  • codominance
  • multiple alleles
  • sex-linked inheritance
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34
Q

considered Non-Mendelian, which means the pattern of passing trait from parent to offspring is not bound to Mendel’s laws.

A

modes of inheritance

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35
Q

types of complete dominance

A

Autosomal Dominant
Autosomal Recessive

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36
Q

types of Sex-linked Inheritance

A

X-linked Dominant Inheritance
X-linked Recessive Inheritance
Y-linked Inheritance

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37
Q

[complete dominance]

the dominant allele will mask the recessive allele when in a ________ state

A

heterozygous

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38
Q

the dominant allele will mask the recessive allele when in a heterozygous state

A

complete dominance

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39
Q

homozygous dominant and heterozygous forms will be phenotypically indistinguishable

A

complete dominance

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40
Q

[complete dominance]

the recessive allele will only be expressed in the phenotype when in a _______ state

A

homozygous

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41
Q

neither allele is completely dominant over the other

A

incomplete dominance

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42
Q

occurs when pairs of alleles are both expressed equally in the phenotype of a heterozygous individual

A

codominance

43
Q

more than 2 alleles exist; occur in blood types

A

multiple alleles

44
Q

which allele is recessive and does not modify the basic antigenic structure?

A

O alleles

45
Q

which alleles are co-dominant and each modify the antigen to produce different variants?

A

A and B alleles

46
Q

refers to when a gene
controlling a characteristic is located
on a sex chromosome (X or Y).

A

Sex linkage

47
Q

which chromosome is
much shorter and contains
only a few genes?

A

Y chromosome

48
Q

which chromosome is
longer and contains many
genes?

A

X chromosome

49
Q

sex-linked conditions are usually ____, as very few genes exist on the shorter chromosome

A

x-linked

50
Q

The following trends always hold true for X-linked conditions:

A
  • only females can be carriers
  • males cannot be heterozygous carriers
  • males will always inherit an x-linked trait from their mother; y chromosome from their father
  • females cannot inherit a x-lined recessive condition from an unaffected father; must receive his dominant allele
51
Q

x-linked dominant disease, bent limbs and their body is unable to absorb calcium (vit d resistance)

A

rickets

52
Q

x-linked dominant disease, intellectual disability, affects both male and female but females have milder symptoms

large ears, long face, prominent jaw and forehead, flat feet

A

fragile x syndrome

53
Q

the manifestation of a
phenotypic trait by an allele or gene
on the Y chromosome

A

Y-linkage

54
Q

are passed only from
father to son, with no genetic
recombination occurring

A

Y-linked traits

55
Q

example of y-linked inheritance

A

hypertrichosis

56
Q

environmental factors may also influence the expression of characteristics (Hydrangeas, human skin color)

A

role of environment

57
Q

alleles that cause an organism to
die only when present in a homozygous condition

A

Lethal alleles

58
Q

Lethal alleles are alleles that cause an organism to die only when present in a __________ condition

A

homozygous

59
Q

An example of lethal alleles in humans; genetic condition which causes
dwarfism

A

achondroplasia

60
Q

The lethal allele is __________ and hence causes the death of the organism when present in the homozygous state

A

dominant

61
Q

The gene involved is considered an _____________ and the lethal allele may be either dominant or recessive

A

essential gene

62
Q

_________ create altered genotypic and
phenotypic ratios

A

lethal alleles

63
Q

Normally a cross of two heterozygotes will generate a 3 : 1 ratio (dominant : recessive)

A

lethal alleles

64
Q

describes a condition whereby one gene controls the expression of another gene; fur color in mice; gene for baldness in humans

A

Epistasis

65
Q

occurs when a single gene affects
multiple traits – hence mutations will tend to be severe and affect multiple systems

A

pleitropy

66
Q

Pleiotropy can be observed in the multiple health issues arising from __________; rapid breakdown of red blood cells; clotting of sickle cells in vessels

A

sickle cell anemia

67
Q

the process by which one of the two X
chromosomes present in females is inactivated

A

X-inactivation

68
Q

This ensures that females do not produce twice as many
X-linked gene proteins as males

A

X-inactivation

69
Q

Once an X chromosome is inactivated, it will remain permanently ______ in the cell

A

inactive

70
Q

describes the presence of two
populations of cells with distinct genotypes within a single organism

A

Mosaicism

71
Q

It is caused when either mutation or division error creates two distinct cell types which divide into separate cell lines

A

Mosaicism

72
Q

a chart of the genetic history of a
family over several generations

A

pedigree

73
Q

parents are affected; offspring is unaffected

A

autosomal dominant

74
Q

parents unaffected = offspring unaffected

A

homozygous recessive

75
Q

all affected individuals must have atleast one affected parent

A

autosomal dominant

76
Q

unaffected parents; unaffected offspring (parents are heterozygous carriers)

A

autosomal recessive

77
Q

both parents show a trait = offspring should exhibit the trait

A

homozygous recessive

78
Q

if a male shows a trait, so must all daughters as well as his mother

A

x-linked dominant

79
Q

unaffected mother CANNOT have affected sons (or an affected father)

A

x-linked dominant

80
Q

more common in females

A

x-linked dominant traits

81
Q

if a female shows a trait, so too must all sons as well as her father

A

x-linked recessive

82
Q

unaffected mother CAN have affected sons if she is a carrier (heterozygous)

A

x linked recessive

83
Q

more common in males

A

x linked recessive

84
Q

groups of genetically identical organisms or a group of
cells derived from a single original parent cell

A

Clones

85
Q

method by which cloned embryos can be produced using differentiated
adult cells

A

Somatic cell nuclear transfer

86
Q

SCNT process

A
  • An unfertilized egg is removed from a female adult and its haploid nucleus is removed to produce an
    enucleated egg cell
  • The enucleated egg cell is fused with the nucleus from the adult donor to make a diploid egg cell (with the
    donor’s DNA)
  • An electric current is then delivered to stimulate the egg to divide and develop into an embryo
  • The embryo is then implanted into the uterus of a surrogate and will develop into a genetic clone of the adult
    donor
87
Q

used to deliver genetic material to
a target cell via horizontal gene transfer

A

vector

88
Q

circular DNA molecule capable of self-replication and autonomous protein expression

A

plasmid

89
Q

commonly used vector is plasmid

A

non-viral delivery

90
Q

electric current is applied to make temporary holes in the cell membrane

A

electroporation

91
Q

thermal energy is used

A

heat shocking

92
Q

DNA coated particles are shot into the cells by a gene gun

A

particle bombardment

93
Q

glass micropipette is used to inject the vector directly into a cell

A

microinjection

94
Q

vector is transferred within a liposome

A

lipofection

95
Q

a vesicle capable of fusion with the cell membrane

A

liposome

96
Q

insertion of a viral vector into a cell is called transduction

A

viral delivery

97
Q

process of gene transfer

A
  • isolation of gene and vector
  • digestion of gene and vector
  • ligation of gene and vector
  • selection and expression
98
Q

DNA can be isolated from cells by centrifugation; via polymerase chain reaction (PCR)

A

isolating gene and vector

99
Q

must be cut with restriction enzymes; restriction enzymes

A

digesting gene and vector

100
Q

gene of interest is inserted into plasmid vector; DNA ligase, sticky ends via complementary base pairing

A

ligation of vector and insert

101
Q

recombinant construct is finally introduced into an appropriate organism; transfection

A

selection and expression

102
Q

In order to incorporate a gene of interest into a vector, both must be cut with restriction enzymes at specific _____.

A

recognition sites

103
Q

DNA can be isolated from cells by centrifugation – whereby heavier components such as nuclei are separated. The gene of interest can then be specifically amplified via _____.

A

polymerase chain reaction

gen bio 2 finals (1 decks)

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