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BIO 1200 > Chapter 17: Genetics > Flashcards

Chapter 17: Genetics Flashcards

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Biology 101 flashcards
1
Q

who is Mendel and and what did he study, theory?

A

an Australian monk in 1860s
he studied inheritance patterns of simple traits=genes in the garden pea and these traits had distinguishable types or alleles
theory of inheritance

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2
Q

phenotype

A

visible type of trait, appearance

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3
Q

genotype

A

combination of alleles

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4
Q

monohybrid cross

A

Study the inheritance of one trait
use true breeding homozygous parents for cross- Mendel started with this

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5
Q

P1
F1
F2

A

parental
first filial- first gen children
second filial - second gen children

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6
Q

what kind of experiments did Mendel do?

A

controlled experiments and observed the results

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7
Q

PP x pp=

A

all Pp

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8
Q

Pp x Pp=

A

3 purple, 1 white
1 PP, 2 Pp, 1pp

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9
Q

the dihybrid crosses are based on

A

monohybrid cross ratios

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10
Q

law of segregation

A

each organism is diploid: has 2 copies/ alleles of each gene
during meiosis these alleles segregate so that each gamete contains only one allele for each gene

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11
Q

each trait is controlled by

A

2 alleles

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12
Q

dominant allele

A

can mask the expression of the recessive allele
needs only 1 dominant allele to see the dominant phenotype

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13
Q

alleles for a gene occur at the same

A

gene locus= position on homologous chromosomes

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14
Q

homozygous

A

organism has 2 of the same alleles

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15
Q

heterozygous

A

organism has 2 different alleles

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16
Q

visual appearance of organism

A

phenotype

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17
Q

genetic composition of an organism

A

Genotype

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18
Q

homozygous dominant
heterozygous dominant
homozygous recessive

A

PP
Pp
pp

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19
Q

since all Pp and PP individuals all have the dominant phenotype there is a difference between

A

phenotypic and genotypic ratio

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20
Q

which is the phenotypic ratio and which is genotypic?
1 PP: 2 Pp: 1 pp
3 purple: 1 white

A

genotype
phenotype

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21
Q

if mom is Tt, what gametes can she give?

A

T and t

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22
Q

how do you know the genotype of an organism if heterozygous and homozygous dominants look the same?

A

one trait test cross
test cross- cross an organism with the dominant phenotype with an organism with the recessive phenotype.
the ratio of dominant: recessive phenotype will tell you the genotype of the dominant parent

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23
Q

what kind of game yes can dominant parents make?
recessive?

A

T and?
t

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24
Q

if the dominant parent is a heterozygous the expected phenotype with a recessive is
homozygous

A

1 tall: 1 short
all tall

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25
Q

If TT x tt expect ___ offspring
of Tt x tt expect ___ offspring

A

All T
1/2 T 1/2 t

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26
Q

if there are any recessive offspring the genotype of the dominant parent must be

A

Tt

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27
Q

dihybrids cross study the inheritance of

example

A

2 traits
seed color and shape

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28
Q

law of independent assortment

A

the inheritance of one trait is independent in the inheritance of another trait
(assume the genes are not linked)

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29
Q

what kind of gametes can YYRR make?
YyRr

A

Y,R
Y,y,R,r

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30
Q

a monohybrid cross between 2 heterozygotws produces a ___ ratio

A

3:1

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31
Q

a dihybrid cross can be split into
what method?

A

2 monohybrid crosses
branching method

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32
Q

two trait test cross is used to

A

determine whether an individual is heterozygous or homozygous dominant for either of 2 traits

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33
Q

incomplete dominance
example

A

in some monohybrid crosses it’s possible to get 3 phenotypes instead of the expected 2
there is 1 gene with 2 alleles
CRCR- red
CRCW- pink (intermediate phenotype)
CWCW- white

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34
Q

in incomplete dominance the phenotype of the heterozygous is a

A

blending of the dominant and recessive traits

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35
Q

in codominance the heterozygote shows

A

both the dominant and recessive traits
black, salt and pepper, white

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36
Q

in codominance there is one gene with 2 alleles but

A

both alleles are expressed

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37
Q

multiple alleles
example

A

the trait is controlled by 1 gene that has more than 2 forms
ABO blood type

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38
Q

there is 1 gene with _ possible alleles
alleles for type ABO blood

A

3
A: IA
B: IB
O: i

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39
Q

codominance with multiple alleles can get ______, not______

A

expression of both alleles
blending

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40
Q

IA allele codes for
IB allele codes for
i allele codes for

A

a functional enzyme A
a functional enzyme B
a nonfunctional enzyme
functional is dominant over nonfunctional

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41
Q

enzyme X adds the _____ to a ____ on the RBC

A

core oligosaccharide to a surface protein

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42
Q

enzyme A adds __ to the RBC
enzyme B

A

A antigen
B antigen

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43
Q

the A and B antigen are

A

sugars located in the surface of the RBC

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44
Q

Type A: needs
possible genotypes

A

1 functional enzyme A coded for by the allele A
IAIA, IAi

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45
Q

Type B: needs
possible genotypes

A

1 functional enzyme codes for by the allele B
IBIB, IBi

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46
Q

Type AB: needs
possible genotypes

A

1 functional enzyme codes for by allele A
1 functional enzyme codes for by allele B
IAIB

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47
Q

Type O: need
possible genotypes

A

no functional alleles
ii

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48
Q

antigens

A

located on the surface of RBC determines blood type (self)

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49
Q

antibody

A

protein in blood serum
produced against antigen of opposite bloodtype

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50
Q

what antibodies do you produce?

A

the ones that aren’t against your own antigens

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51
Q

a person with type A has the ___ antigen on RBC
possible genotypes
antibodies on blood serum

A

A
IAIA, IAi
anti-B antibodies

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52
Q

a person with type B has the ___ antigen on RBC
possible genotypes
antibodies on blood serum

A

B
IBIB, IBi
anti-A antibodies

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53
Q

a person with type AB has the ___ antigen on RBC
possible genotypes
antibodies on blood serum

A

A and B
IAIB
no antibodies

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54
Q

a person with type O has the ___ antigen on RBC
possible genotypes
antibodies on blood serum

A

no
ii
anti- A antibodies
anti-B antibodies

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55
Q

Rh factor is determined by

A

a different gene than the gene for ABO blood type

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56
Q

Rh+
Rh-

A

Rh antigen in RBC (present)
no Rh antigen on RBC (absent)

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57
Q

a person with Rh+ blood has the ___ antigen on RBC
possible genotypes
antibodies on blood serum

A

Rh
Rh+Rh+, Rh+Rh-
no antibodies

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58
Q

a person with Rh- blood has the ___ antigen on RBC
possible genotypes
antibodies on blood serum

A

no Rh
Rh-Rh-
anti-Rh antibodies

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59
Q

during a blood transfusion a person receives

A

RBC from donated blood

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60
Q

a person can receive blood if a different blood type as long as

A

the antibodies in his blood serum do not react with the antigens in the RBC of the donated blood

61
Q

Agglutination

A

clumping
if a person has antibodies in his serum that react with the antigens on the RBC of the donated blood

62
Q

anti-A antibody attaches to
anti-Rh antibody attaches to
during agglutination

A

A antigens
Rh antigen

63
Q

each anti-A antibody can bind to

A

2 antigens in incompatible RBC causing cells to clump - lethal

64
Q

a person with type AB + has the ___ antigen on RBC
possible genotypes
antibodies on blood serum
what type of blood can it receive

A

A, B, Rh
IAIB, Rh+Rh+
IAIB Rh-Rh-
no antibodies
all blood types=universal receiver

65
Q

what type of blood can they receive?
no anti-A
no anti-B
no anti Rh-

A

A
B
Rh+ and Rh-

66
Q

a person with type O- has the ___ antigen on RBC
possible genotypes
antibodies on blood serum
what blood can they receive?

A

none= universal donor
ii Rh-Rh-
only O-

67
Q

autosomes

A

same between sexes

68
Q

sex chromosome

A

pair that determines sex of an individual

69
Q

X chromosomes vs Y chromosome

A

X has many genes where y only has a few

70
Q

human male:
human female:

A

XY
XX
y is present it is a male

71
Q

if you see a trait in only one sex it is probably a

A

X linked trait

72
Q

heyerozygotes are carriers so

A

they do it show trait but can pass it on to their offspring

73
Q

sex linked traits: __=___=___

A

carrier=heterozygote=female

74
Q

no allele on which chromosome

A

Y

75
Q

recessive traits show up more in what gender

A

male because the only have one X

76
Q

dosage compensation
in humans and mammals, only….
the other…

A

one cope of X chromosome is active
X chromosome is inactivated= Barr body (folded up very tightly to make it inactive)

77
Q

how is which X chromosome is inactive decided in dosage compensation?

A

at a certain point in development each cell in the embryo randomly chooses one X chromosome to inactivate. everytime a cell divides, that’s when you get the patch of color

78
Q

females are ____ in dosage compensation

A

mosaics: different cells express different genes

79
Q

tortoiseshell cats have payches of black and orange fur. what is the genotype?

A

XBXb
XB= all cells derived from this cell have black fur
Xb= all cells derived from this cell have orange fur

80
Q

after one X chromosome is inactivated, everytime the cell divides…

A

the same X chromosome remains insctivated -> patches of cells with the same color

81
Q

what gender is normally tortoiseshell?

A

female, very rare for males to be but can happen

82
Q

polygenic inheritance

A

one trait is caused by several genes
each gene has 2 alleles

83
Q

contributing alleles have ___ letter
each has a
they are

A

capital
quantitative effect on trait
additive

84
Q

polygenic inheritance: skin color
genes for skin color are
which allele makes color?
darker color=

A

A or a, B or b, C or c
contributing
more contributing alleles the darker the color

85
Q

polygenic inheritance
all 6 recessive
all 6 contributing

creates a

A

pale
very dark

characteristic bell shaped curve

86
Q

polygenic inheritance increases

A

the chance that a phenotype suited to the environment will be produced

87
Q

___ interacts with polygenic inheritance to produce ___
examples

A

environment
many phenotypes
skin color modified by sun exposure
height modified by nutrition

88
Q

both the genotype and environment affect the ___ in polygenic inheritance
especially ___ can have an extreme effect

example with flowers

A

phenotype
temperature

Blue flowers- acidic soil
pink flowers- basic or neutral soil

89
Q

Himalayan rabbits
what?
why?

A

white fur in body with black fur on extremities (ears, feet, tail)
due to temperature - polygenic inheritance
Ch form of enzyme only functions at low temperatures, unstable at high so body and head don’t make black fur

90
Q

epistasis
alleles

A

a gene at one locus interferes with the phenotypic expression of a gene at a different locus
usually a pair of recessive alleles for one gene prevents the expression of the dominant phenotype

91
Q

genes work ___ or in ___

A

together
pathway

92
Q

in epistasis, both genes must produce ___ to see the dominant phenotype

A

a functional enzyme

93
Q

genes code for

A

Enzymes / proteins

94
Q

epistasis in peas pathways

A

2 genes required to make purple
enzyme A: precursor (white) -> intermediate (white)
enzyme B: intermediate (white) -> product (purple)

95
Q

enzyme A in epistasis in peas
produced
functional enzyme
nonfunctional enzyme

A

by the A gene
AA or Aa
aa

96
Q

enzyme B in epistasis peas
produced
functional enzyme
nonfunctional enzyme

A

by the B gene
BB or Bb
bb

97
Q

epistasis in peas
how to get white flowers?

A

if either enzyme A or enzyme B is nonfunctional

98
Q

what are the genotypes of a white flowered pea plant in epistasis

A

aaBB, aaBb, aabb, AAbb, Aabb, aabb

99
Q

What are the genotypes of a purple flowered pea plant in epistasis?
need

A

AABB, AABb, AaBB, AaBb
need functional A and B enzymes

100
Q

fur color in labs is due to
what are they?

A

2 genes
epistasis
B gene codes for color of pigment (B= black, b= brown)
E gene codes for how much pigment is put into fur (E= normal amt pigment, e= very little pigment) golden

101
Q

epistasis in labs
ee =
E_=

A

golden color regardless of pigment
black or brown color

102
Q

what genotype will give black puppies?

A

need in E and B
BBEE, BBEe, BbEE, BbEe

103
Q

what genotypes will give chocolate puppies?

A

need one E and bb
bbEE, bbEe

104
Q

what genotype will give golden puppies?

A

need ee
BBee, Bbee, bbee
aren’t white so they have a trace amount of color

105
Q

types of prenatal testing and their definition

A

amniocentesis: removes amniotic fluid and culture fetal cells (14th - 16th week)
CVS = chronic villi sampling: remove cells of chorionic villi (8th - 10th week)

106
Q

what is the least common type of prenatal testing?

A

CVS but it can be done earlier

107
Q

karyotype

A

chromosomes are photographed and arranged so homologous chromosomes are paired up

108
Q

type of chromosomal abnormalities

A

non disjunction

109
Q

nondisjunction

A

inherit an abnormal number of chromosomes
caused by a mistake during meiosis
homologous chromosomes do not separate in meiosis 1
sister chromatids do not separate during meiosis 2
since they don’t separate one cell will get 2 and the other will get nothing

110
Q

chromosomal abnormalities can get an extra chromosome in

if this fuses with a normal gamete the offspring will have

A

gametes (n+)
3 copies of one chromosome instead of 2

111
Q

chromosomal abnormalities can result in the loss of a chromosome in

if this fuses with a normal gamete the offspring will have

A

gametes (n-1)
1 copy of one chromosome instead of 2

112
Q

trisomy

A

3 copies of one particular chromosome

113
Q

monosomy

A

1 copy of one particular chromosome
and 2 copies of all other chromosomes

114
Q

trisomy happens with the
monosomy happens with the

A

gain of chromosomes
loss of chromosomes

115
Q

Down syndrome is also called
symptoms
inherited

A

Trisomy 21
mental retardation, wide flat face, slanting eyelids
extra chromosome usually inherited from mom but can be from dad

116
Q

chance of having a child with downs increases in moms over

A

40 years
young moms may still have kids with Down syndrome

117
Q

Down syndrome: in some cases (5%) a translocation occurs so that

A

part of chromosome 21 becomes attached to another chromosome

118
Q

gart gene

A

causes increased levels of purines in blood, mental impairment

119
Q

trisomy of other autosomal chromosomes is rare and usually

A

lethal

120
Q

trisomy 16

A

miscarried fetus

121
Q

triploid

A

3 copies of every chromosome
3n

122
Q

disorders caused by an abnormal number of sex chromosomes are

A

turner syndrome: XO
Klinefelter syndrome: XXY
triple-X: XXX
Jacob syndrome: XYY

123
Q

Turner syndrome

A

XO
Only 1 x chromsome
Only females have this
practically normal besides the ovaries can’t make eggs so they are infertile, poor breast development, and rudimentary ovaries

124
Q

Klinefelter syndrome

A

XXY or XXXY
has 2 or more X chromosomes
only males because there is a y
with extra X things become more feminized, under developed testes, reduced body and facial hair
development of sex organs will not be made correctly

125
Q

Triple-O

A

XXX
only females
appear normal: fertile
may have tendency towards learning disabilities
may have menstrual irregularities
increased risk of having XXX daughters or XXY sons (don’t know they have it until they have kids)

126
Q

Jacob syndrome

A

XYY
Taller than average
Persistent acne
tend to have speech and reading problems
only males
current study (no more criminal than general population)

127
Q

types of chromosome mutations

A

aneuploidy: change in number of one chromosome (trisomy -Down syndrome, monosomy)
chromosome rearrangement: deletion, other

128
Q

chromosome rearrangement 2: chromosome deletion
dosage problems:

A

Loss of a region of DNA
only have 1 copy of some gametes
humans usually need 2 copies for normal development and health

129
Q

Cri du chat: 5P-

A

Caused by a deletion j. Short arm of chromosome 5
occurs in 1/20,000-1/50,000
new mutation: no family history
chromosome with deletion usually from dad (80%)
infants make sound like cat meow
small head, wide eyes
Decreased mental capacity
behavioral problems
motor delay
speech problems
some have heart defects
may have difficulty walking and talking

130
Q

severity of cri du chat depends on

A

How much of chromosome 5 is deleted

131
Q

Cri du chat
CTNND2 -> delta care in protein
active in _
in _
communication at _

TERT:

A

brain development
dendrites and nerves
synapse

Involved in telomere replication

132
Q

chromosome deletions in humans: William syndrome

A

look like pixies
poor academic skills
excellent verbal and musical skills
cardiovascular problems
deletion of chromosome 7

133
Q

autosomal genetic disorders

A

on autosomes
medical condition inherited from either parent
may be dominant or recessive

134
Q

Huntington disease

A

develop several nuerological problems and eventual death

135
Q

adult onset

A

develops when person is 40’s or older
may have reproduced before have symptoms of diesease

136
Q

Huntington is
HH:
Hh:
hh:

A

Dominant
Huntingtons
huntingtons
normal

137
Q

Huntington disease is caused by
causes proteins in brain to
progressive

A

CAG repeats in Huntington protein
clump and nerve cells die
degeneration of brain

138
Q

types of recessive diseases and definitions

A

cystic fibrosis: Thick mucus in lungs and digestive tract
tay Sachs: develop neurological problems, seizures, death by 5
phenylketunuria (PKU): can’t metabolize phenylalanine, leads to mental impairment if not detected early and put on special diet

139
Q

Tay sachs
missing
bulging
symptoms
parents
type

A

missing lysosomal enzyme
bulging lysosomes in body cells and brain
neurological problems, blind, seizures, death of baby
mom and dad will be normal
autosomal recessive disease

140
Q

homozygous recessive individuals may

A

die

141
Q

heterozygotes appear ___ but ___

A

normal
are carries for the disease
(sometimes can be an advantage)

142
Q

balanced polymorphism

A

heyerzygotes may be protected from a totally different disease

143
Q

sickle cell anemia caused by
what does it lead to

A

point mutation in gene for hemoglobin
sickle shape clogs narrow arteries, especially in joints-> poor circulation, anemia, internal hemorrhaging

144
Q

genetics of sickle cell anemia
Hb^A=
Hb^S=
Hb^AHb^A =
Hb^AHb^S =
Hb^SHb^S=

A

normal hemoglobin
sickle cell allele
normal (susceptible to malaria)
sickle cell trait (mild symptoms, resistant to malaria)
sickle cell disease (serious, no malaria)

145
Q

Balanced polymorphism: sickle cell trait is more common __
when malaria parasite infects RBC of individuals with sickle cell trait the cells_

A

in regions where malaria was prevalent: Africa, parts of Middle East and India
sickle and the malaria parasite can’t survive: heterozygotes are protected from malaria

146
Q

cystic fibrosis defects in

A

transport proteins for chloride ions which affects osmosis so thick mucus

147
Q

pleiotropy: cystic fibrosis

A

many different symptoms of disease, all caused by same mutant protein found in many tissues

148
Q

due to mutated CFTR (chloride channel transports cl out of cell)
The CFTR is missing or nonfunctional
very common in people of European descent
carriers 1/25, incidence of disease 1/2500
before 1959 people with this dies by age of 2

A

Cystic fibrosis and typhoid

149
Q

typhoid fever is caused by
spread by
binds to
can’t bind to

A

salmonella typhi
contaminated food and water-> huge epidemics
normal CFTR in intestine and brought into cells as part of the infection process
mutated or absent CFTR in people with cystic fibrosis so heterozygotes are resistant to typhoid

BIO 1200 (17 decks)

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