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Heredity

Chapter 14-15

Information needed to
solve genetic problems:
Parents = P Generation and offspring/progeny =
F1 or F2 Generation.
Rules of probability:
1. 50/50 chance of either heads or tails.
2. Another flip is not affected by the first flip still a
50/50 chance of either heads or tails.
3. If a problem involves and = multiply.
4. If a problem involves or = add.
e.g. for two consecutive flips of a coin, what
is the probability of getting 2 heads?

x=

Genetics Vocabulary:
Gene: genetic material on a chromosome/a
segment of DNA that has instructions for creating a
particular trait. A gene codes for a trait protein.
Allele: different forms of the same gene.
e.g. in pea plants, there are two alleles for flower
color the purple allele which codes for purple
flowers and the white alleles which codes for white
flowers.
Locus: location of a gene on a chromosome.

Every cell contains two copies of each chromosome, one


received/inherited from each parent. A pair of chromosomes
is called a homologous pair each chromosome of the pair
contains a gene for the same trait at exactly the same loci.
At a particular loci, the two genes of the pair of homologous
chromosomes, gene pair, may represent two different alleles
for the gene because each allele originated from a different
parent.

Phenotype: the actual outcome due to the expression of


a gene (e.g. blue eyes, purple flowers, brown eyes, etc.
each represents the expression of their respective
genes).
Genotype: the actual alleles/gene combinations that an
individual has resulting in a particular phenotype (e.g.
allele for purple flowers = P and the allele for white
flowers = p).
Dominant vs. Recessive:
1. Because an individual has two alleles for each gene
(one inherited from each parent) one allele may be
more powerful than the other. If this is the case,
one allele is referred to as dominant while the other
is considered recessive (e.g. in pea plants, the
purple flower allele is dominant over the white flower
allele If a pea plant receives one of each allele,
only the dominant allele, i.e. purple is expressed in
the phenotype).

2.
3.
4.

Dominant Allele = CAPITAL LETTER (P, F).


Recessive Allele = lower case version of the same letter
(p, f).
Recessive traits are only expressed in the homozygous
condition. Dominant traits are expressed under either
homozygous or heterozygous conditions.

Heterozygous vs. Homozygous:


1. Two of the same alleles vs. two different alleles.
2. If a pea plant receives a purple allele from each
parent then it is considered homozygous dominant
(PP). If, on the other hand, a pea plant receives a
white allele from each parent, then it is still
considered homozygous, but this time homozygous
recessive (pp). If a plant inherits a purple and a white
allele (one from each parent), then it is considered to
be heterozygous (Pp) the phenotype expressed
would be dominant.

Laws of Heredity:
During meiosis I, each
member of a
homologous pair of
chromosomes migrates
to opposite poles of the
cell each gamete will
contain only one allele
for each gene.
The law of segregation
= the random
segregation of alleles to
separate gametes during
meiosis.

Law of independent assortment: homologous


chromosomes and their genes separate
independently of the segregation of other
chromosome pairs.
Both laws are random processes; therefore, the rules
of probability apply in heredity.

Mendel:
19th century monk credited with discovering the
law of segregation and the law of independent
assortment. He mated or crossed two varieties
of pea plants to form offspring or hybrids. In
genetic crosses:
1. The P generation = the parents.
2. The F1 generation = offspring from parents
crossing.
3. The F2 generation = offspring produced from F1
crossings.

Monohybrid Crosses:

Cross examining a single trait originating from


a single gene. Punnett squares are used to
predict the possible outcomes from a genetic
cross.
Punnett Square:

Practice Problem: analyze the results of a


cross between a heterozygous purple flower
pea plant and a white flower pea plants.

Step 1: determine genotypes of parents:


Heterozygous purple flowers = Pp
White flowers = pp
Step 2: determine all possible gametes produced by
parents:

Heterozygous purple flowers Pp = P and p gametes


White flowers pp = p and p
Step 3: set up a Punnett Square:
p
p

Alleles for parent #2


4 Boxes represent all
possible genotypes of
progeny

P
p
Alleles for parent #1

Step 4: Fill-in results of Punnett


Square:
p
p

Pp

Pp

pp

pp

Step 5: Analyze the results of the Punnett Square:


2 out of 4 = Pp
or 50%

2 out of 4 = pp
or 50%

Ratio of Pp : pp = 1 : 1

Genotypes = heterozygous (Pp)


homozygous recessive
(pp)
Ratio of Pp : pp = 1 : 1
Phenotypes = purple flowers
white flowers
Ratio of purple : white = 1 : 1
Step 6: Summarize results:
P generation:

Pp x pp
The ratios of this cross are
1 : 1 Pp : pp, purple : white

F1 generation: Pp and pp
(Purple) (White)

Practice Problem: find the frequencies of the F2


generation for the cross PP x pp.
Step 1: determine the genotypes of the F1 generation
p

Pp

Pp

Pp

Pp

Step 2: Analyze results:


4 out of 4 = Pp
100% Pp
100% heterozygous
100% purple flowers

Step 3: to find F2 generation, cross the F1 generation with

Pp x Pp

themselves:

PP

Pp

p
pp
Pp
Step 4: Analyze results:
1 out of 4 = PP, 2 out of 4 = Pp, 1 out of 4 =

pp

pp
PP)

or 25% = PP, or 50% = Pp, or 25% =


Genotypes = or 25% homozygous
or 50% heterozygous (Pp)
or 25% homozygous recessive

Ratio
PP : Pp :
pp
1:2:1

Phenotypes: or 75% purple flowers


or 25% white flowers

Ratio
Purple : White
3:1

Test
Crosses: pea plant is always: pp
The genotype of a white-flowered
in order for a recessive phenotype to be expressed, there must
be two copies of the recessive allele.
Is the genotype of a purple-flowered pea plant PP or Pp?
To determine the genotype, a test cross is done = a cross
between an individual whose genotype is unknown, with an
individual whose genotype is known.
YOU WILL ALWAYS KNOWS THE GENOTYPE OF THE
INDIVIDUAL THAT EXPRESSES THE RECESSIVE TRAIT
BECAUSE IT MUST BE HOMOZYGOUS.
Cross the P_ with a homozygous recessive plant, pp.
The 2 possible Punnett Square results would be as follows:

Pp

Pp
p

Pp
Pp
Pp

4 out of 4 or 100%=

Pp

Pp

pp

pp

2 out of 4 or = Pp
2 out of 4 or = pp
50% Pp
50% pp
Purple
White

If when the test cross is performed all the flowers produced are
purple, then the unknown pea plant was homozygous (PP).
If however, the test cross results in some white-flowered
plants, then the unknown pea plant would be heterozygous
(Pp).

Dihybrid
Genes for two different traits with two different alleles
Crosses:
each, are observed
at the same time. In pea plants, seed
color can be yellow (Y) or green (y) and seed texture can be
round (R) or wrinkled (r).
Practice Problem: Analyze the F2 generation of a cross
between a pea plant homozygous dominant for both traits
and a 2nd plant homozygous recessive for both traits.
Step 1: determine genotype of both parents:
Homozygous dominant both traits = YYRR
Homozygous recessive both traits = yyrr
Step 2: determine all possible gametes produced by parents:
YYRR = YR, YR, YR and YR
yyrr = yr, yr, yr and yr

Step 3: set up the Punnett


Square:
yr

yr

yr

yr

Alleles for parent #2

YR
YR
YR
YR
Alleles for parent #1

(16 boxes represent


all possible
genotypes of
progeny)

Step 4: Fill in results of the Punnett Square:


yr

yr

yr

yr

YR YyRr YyRr YyRr YyRr


YR YyRr YyRr YyRr YyRr
YR YyRr YyRr YyRr YyRr
YR YyRr YyRr YyRr YyRr
Step 5: Analyze the results of the punnett square
16 out of 16 or 100% = YyRr = Yellow, Round

Step 6: To find the F2 generation, cross an F1 individual


with itself:
YyRr x YyRr
Step 7: Determine all possible gametes produced by
individuals of the F1 generation:
YyRr

YyRr
YR, Yr, yR, yr

YR, Yr, yR, yr

Step 8: Use a Punnett Square to determine all possible


genotypes of the F2 generation using the F1 gametes:

YR

Yr

yR

yr

YR

YYRR

YYRr

YyRR

YyRr

Yr

YYRr

YYrr

YyRr

Yyrr

yR

YyRR

YyRr

yyRR

yyRr

yr

YyRr

Yyrr

yyRr

yyrr

Step 9: analyze the results:


1 + 2 +2 + 4 = 9 out of 16 = yellow, round
1 + 2 = 3 out of 16 = yellow, wrinkled
2 + 1 = 3 out of 16 = green, round
1 = 1 out of 16 = green, wrinkled

Ratio =
9:3:3:1

Incomplete Dominance:
The alleles for a gene DO NOT exhibit dominant and
recessive behaviors.
The two different alleles in the heterozygous condition
produce a blending of the individual expressions of the
two alleles.
e.g. In snapdragons the heterozygous condition
consisting of one allele for red flowers (R) and one
allele for white flower (r) is pink (Rr). The alleles are
written as two capital letters, one with a prime to
differentiate (red = R, white= R, pink = RR).

Practice Problem: determine the genotype and


phenotype frequencies of a cross between a pink
snapdragon and a white one:
Step 1: determine the parent genotypes:
Pink= RR
White= RR
Step 2: determine all possible F1 genotypes using a Punnett
Square:
R
R
R

RR

RR

RR

RR

Genotypes: 2 out of 4 or or 50%

RR
2 out of 4 or or

0% = RR

Ratio of RR :
R = 1 : 1 Phenotypes: 2 out of 4 or or 50% = pink
2 out of 4 or or 50% = white
Ratio of pink : white = 1 : 1

Codominance
Again, the alleles DO NOT exhibit dominant and recessive
: two different alleles are expressed in the
behaviors. When
heterozygous condition, THEY BOTH DO SO COMPLETELY.
Human blood types are a great example of codominance:
1.
A blood
2.
B Blood
3.
And AB blood which is the expression of the A and B antigens
together.

Multiple Alleles:

When there are more than two alleles for a particular gene.
For human blood types there are three alleles: A, B and O.
A and B together express codominance.
But A and B are both dominant over the recessive O.
1. A blood type genotypes are IAIA or IAi.
2. B blood type genotypes are IBIB or Ibi.
3. O blood type genotypes is ii.
4. AB blood type genotype is IAIB.
The four phenotypes correspond to the presence or
absence of an A or B carbohydrate component of a
glycoprotein on the surface of red blood cells called
an antigen.
1. IAIA and IAi genotypes produce the A carbohydrate.
2. IBIB and IBi genotypes produce the B carbohydrate.
3. IAIB genotype produces both carbohydrates.
4. ii genotype produces a carbohydrate with NO effect.

If an individual with IBIB, IBi or ii blood is given type A blood,


then the A carbohydrate on the new red blood cells will be
indentified by the individuals immune system as a foreign
substance antigen.
The immune system responds to antigens by producing
antibodies that will attack the antigen. This will results in
clumping or agglutination of the blood which is deadly.

Because AB blood produces both A and B antigens and


NO antibodies, individuals can receive any blood type
universal recipient.
Because O blood produces no antigens it can be given to
any individual, regardless of their blood type universal
donor.

Epistasis:

One gene affects the expression of a 2nd gene.


Frequently occurs in the expression of pigmentation one gene
turns on (or off) the production of pigment while a 2nd gene
controls either the amount of pigment produced or the color of the
pigment.
If the 1st gene codes for no pigment, then the expression of the
2nd gene has no effect regardless of the pigmentation it codes for.
Occurs in the pigmentation of mice once gene codes for the
presence/absence of pigmentation while a 2nd gene codes for
color, black or brown.
1. Alleles C and c code for the presence/absence of color.
2. Alleles B and b code for black/brown pigments.
3.
Both genes follow complete dominance.
CCBB, CCBb, CcBB, CcBb all code for black mice.
CCbb and Ccbb result in brown mice.
Any combination of the B and b alleles with cc will result in
white mice albino, no pigmentation.

Pleiotropy
When a single gene expresses many phenotypes.
:
The gene in pea plants that expresses round, wrinkled
seeds also determines the expressions of starch
metabolism and water absorption.
Round seed allele also converts a higher [glucose] to
starch (storage molecule) than does the wrinkled seed
allele.
Increase in [starch] decrease in [glucose] decrease in
H2O absorption via osmosis less H2O loss when mature
smooth and round-shaped seeds.
Unconverted glucose in wrinkled seeds decrease in
[starch] increase in [glucose] increase in H2O
absorption via osmosis more H2O loss when mature
dehydration wrinkled-shaped seeds.
(Many disease-causing genes exhibit pleiotropy such as

Polygenic Inheritance:
When many genes shape a single phenotype.
Results in phenotypes expressed as a continuous variation across a
spectrum as opposed to just two or three types.

e.g., height and skin


color range on a
continuum from short
to tall and light to
dark, respectively.

Linked
Genes that reside
on the SAME chromosome cannot
Genes:
segregate independently of each other because they are
physically connected.
Non-linked genes reside on DIFFERENT chromosomes
separate independently of each other according to the law
of independent assortment (seed color and seed texture).
Genes that are linked are usually inherited together.
In Drosophila (fruit flies) two mutations (one affecting body
color and one wing structure) are linked.
The normal, or wild type, body color is gray (B), while the
mutant allele is black (b).
The wild type wings are V, whereas the mutant vestigial
wings (small under-developed, and nonfunctional) are v.
As a result of the linked genes, a fly heterozygous for gray
color and normal wings indicated by BbVv, would have BV
on one chromosome and bv on the homologous
chromosome.

(parent types)

Unlinked Genes: typical


Dihybrid cross Law of
Independent Assortment
applies.
(recombinant types)

Linked Genes: NOT a


typical Dihybrid cross
recombinants only
exist if Crossing Over
occurs between loci.

If the genes were NOT linked, the expected outcome of


a cross between a heterozygous gray, heterozygous
normal fly (BbVv) and a black fly with vestigial wings
(bbvv) would be as follows:

BbVv

x bbvv

bv

bv

bv

bv

BV

BbVv

BbVv

BbVv

BbVv

Bv

Bbvv

Bbvv

Bbvv

Bbvv

bV

bbVv

bbVv

bbVv

bbVv

bv

bbvv

bbvv

bbvv

bbvv

or 25% = BbVv, or 25% = Bbvv,


bbvv

or 25% = bbVv, or 25%

However, the two genes are on the same chromosome.


The gray-normal fly (BbVv) can only produce two different
gametes BV and bv = parent types.
CANNOT produce Bv and bV = recombinant types.
Taking linkage into consideration, the outcome would be
as follows:
bv

bv

bv

bv

BV

BbVv BbVv BbVv BbVv

bv

bbvv

or 50% = BbVv

bbvv

bbvv

bbvv

or 50% = bbvv

Ratio of BbVv : bbvv = 1 : 1

If this cross was actually carried out, and 100 offspring were
had, the results WOULD NOT appear in either expected
ratio:
1. Not the 1 : 1 : 1 : 1 ratio of BbVv : Bbvv : bbVv : bbvv
(unlinked) = 25, 25, 25, and 25 offspring.
2. Not the 1 : 1 ratio of BbVv : bbvv (linked) = 50 offspring
each.
The actual results = 41 : 9 : 9 : 41, BbVv : Bbvv : bbVv :
bbvv
The results are CLOSER to those expected for linked genes
the genes are NOT COMPLETELY LINKED.
Linked genes will cross over during prophase I.
To determine the % of time crossing over occurs, the
RECOMBINATION FREQUENCY is calculated:
1. # RECOMBINANTS/TOTAL # OF OFFSPRING
(9 + 9)/(41 + 9 + 9 + 41) = 18/100 = .18
2. To calculate a %, multiply by 100
.18 x 100 = 18% crossing over happens

Recombinant gametes (Bv and bV) produced by crossing


over occur less frequently than gametes produced by
independent assortment of non-linked genes.
The distance between two linked genes on a chromosome
directly influences the likelihood of crossing over.
The greater the distance between two genes, the more
likely it is that crossing over will occur during synapsis.
Recombination frequencies are used to give a picture of the
arrangement of genes on a chromosome.
RECOMBINATION FREQUENCY = GENE DISTANCE (in
map units).

Given the genotype bb cncn vgvg, the recombination


frequency between b and cn is 8%, cn and vg is 9% and b
and vg is 17%.
The frequencies are a direct measure of distance: b and cn
are 8 map units apart, cn and vg are 9 map units apart, and
b and vg are 17 map units apart.
The resulting map known as a linkage map indicates the
order of genes as b-cn-vg.
A cytological map is one in which the true relative positions
of the genes are determined. Additional experimentation is
required.

Chi Square
A mathematical way of compare the observed results of a genetic
cross with
the expected results biology statistics.
Analysis:
Answering the question: is there a significant difference between
the observed and expected results or are any differences just
the result of chance?
The hypothesis tested is called the NULL HYPOTHESIS and states
that any differences between observed and expected data are
insignificant and the result of chance only.
The mathematical calculation for Chi Square (2) =
(observed expected)2
e
To solve for 2 a table should be used:
o

o-e

(o-e)2

(o-e)2
e

Phenotype #1
Phenotype #2
(etc.)
2 =

(o-e)2 =
e

Once 2 is calculated, it MUST be compared to the values on the Chi


Square Distribution Chart degrees of freedom vs. 0.05
probability.
Degrees of freedom = the number of values in the calculation that
are free to vary equal to the # of phenotypes 1.

the calculated 2 is compared to the value on the chart:

If 2 < value on chart = null hypothesis is NOT REJECTED


(differences are minimal and due to just chance).

If 2 > value on chart = null hypothesis is REJECTED


(differences are too great and due to something more than

Practice Problem: the observed results of a cross between two


hybrid tall pea plants are as follows:
34 pure tall pea plants
35 hybrid tall pea plants
31 pure short pea plants
If the tall allele shows complete dominance over the short allele,
calculate the chance that the deviation from the expected values
in this cross are due to random chance alone.
Step 1: use a Punnett Square to determine the expected genotypic
ratio of the offspring for the given cross:

TT

Tt

Tt

tt

TT : Tt : tt
1:2:1

Step 2: Using the ratio in step 1, calculate the expected results from
the given cross:
34 + 35 + 31 = 100 total offspring
100/4 = 25 25 pure tall pea plants
(1 : 2 : 1)
50 hybrid tall pea plants
25 pure short pea plants
Step 3: Fill in the Chi Square Table:
o

o-e

(o-e)2

(o-e)2
e

Pure tall

34

25

81

3.24

Hybrid tall

35

50

-15

225

4.5

Pure short

31

25

36

1.44

2 =

(o-e)2 = 9.18
e

Step 4: Calculate the degrees of freedom (phenotypes -1):


# of phenotypes = 3
3-1 = 2 degrees of freedom
Step 5: Using the Chi Square Distribution Chart look up the Chi
Square value at 0.05 probability for the degrees of freedom
calculated:

= 5.99
Step 6: Compare the calculated 2 value with that on the chart

and reject or NOT reject null hypothesis:


9.18 > 5.99 null hypothesis is REJECTED.
THE OBSERVED DEVIATIONS IN THE CROSS
ARE DUE TO SOMETHING MORE THAN JUST
CHANCE.

Sex-linked
There
is one pair of homologous sex chromosomes X &
Inheritance:
Y.
All other chromosomes are known as autosomes.
X & Y chromosomes DO NOT have exactly the same genes
Sex-linked genes are also known as X-linked genes
because they reside on the X chromosome.
Y-linked genes are possible, although rare (the chromosome
is too small to carry genes).
When females inherit a sex-linked gene, they receive 2
copies of the gene because they have two X chromosomes
(XX).
A male (XY) only inherits one copy of the gene because only
the X chromosome carries the gene. (Remember there is no
similar gene delivered by the Y chromosome).
For a male, whichever allele is on the X chromosome,
whether it is dominant or recessive, is the allele whose trait is

Hemophilia is a recessive sex-linked gene (h).


Hemophiliacs cannot properly form blood clots and are
at risk of bleeding to death.
Males who inherit the normal allele (H) are XHY and are
normal.
Females who inherit at least one copy of the normal
allele (H) are XHXH or XHXh and are also normal.
In order for a female to be a hemophiliac she must
inherit two copies of the recessive allele (XhXh).
A male needs to only inherit one copy of the recessive
allele to be a hemophiliac (XhY).
Hemophilia, and other sex-linked traits are more
common in males.
Females who are XHXh are normal, but referred to as
carriers = they can pass the trait on to their offspring.
Males CANNOT be carriers.

Practice Problem: what is the chance that a man with


hemophilia and a women who is a carrier, have a daughter
and a son with the disease?
Step 1: determine the genotypes of the parents:
Man = XhY
Woman = XHXh
Step 2: use a Punnett Square to determine the genotypes of
the children:
XH
Xh

Xh

XHXh

XhXh

XHY

XhY

Step 3: analyze the results:


= daughter w/disease (XhXh)
= son w/disease (XHY)
= normal daughter (XHXh) = normal son (XhY)

Step 4: solve the problem:


daughter w/disease AND son = AND = X = 1/16th

XWhen one of the two X chromosomes in female mammals is


inactivation:
inactivated during
embryonic development.
Inactive chromosome is called a barr body = a chromosome
that remains coiled as a dark, compact body.
Most of the genes on a barr body are NOT expressed nor do
they interact with their respective alleles on the X chromosome
that is expressed.
Only the alleles of the genes on the one active X chromosome
are expressed by the cell.
Subsequent daughter cells will have the same X chromosome
inactivated as did the embryonic parent cell from which they
originated.
In a fully developed fetus, some cells will have one X
chromosome inactivated, while others will have the second X
chromosome inactivated all cells in a female mammal are not
functionally identical.

An example of X-inactivation is a calico cat.


Calico cats have yellow, black and white hair randomly
arranged in patches over their bodies.
The yellow and black colors are coded by a gene on the X
chromosome, whereas the white color is controlled by a
different gene.
When the X chromosome with the yellow allele is
inactivated the black color allele on the active chromosome
is expressed, and the hair is black.
In other patches, the chromosome with the black allele may
be inactivated, and those patches will be yellow.
For sex-linked genetic defects in humans such as
hemophilia it is possible that a female carrier XHXh, could
have all of the cells that produce the clotting factor , in
other words, XH, be inactivated the carrier would then
express the same symptoms of hemophilia as an individual
with the disease.

Nondisjunction
When chromosomes DO NOT properly separate at the
metaphase:plate during meiosis Both members of a
homologous pair migrate to the same pole.
Half of the gametes have an extra chromosome, and half are
missing a chromosome.
Gametes with a missing or an extra chromosomes are usually
sterile.
Sometimes certain chromosome imbalances ARE fertile.
These almost always lead to genetic defects.
Down syndrome: an egg/sperm with an extra 21st chromosome
fuses with a normal gamete. The result is a zygote with three
copies of chromosome 21 (trisomy 21).
Turner syndrome: nondisjunction of the sex chromosomes.
1.
Sperm will have either both chromosomes (XY) or no
chromosomes (O used to indicate the absence of a
chromosome).

1.
2.

3.

Similarly, eggs will be either XX or O.


A Turner syndrome zygote (XO) is a female who has one X
(from a normal egg or sperm) and no second chromosome
(from nondisjunction in an egg or sperm).
Individuals will have physical abnormalities and be sterile.

Normal human karyotype


23 pairs of chromosomes.
Karyotype: the # and
appearance of
chromosomes in the nucleus
of an eukaryotic cell map
of a genome.

Down Syndrome karyotype


trisomy 21.

Human Genetic Defects:

Can be cause by the inheritance of an allele, or by


chromosomal abnormalities.
Chromosomal abnormalities result from any of the following:
1. The inherited genome is missing a chromosome or has
an extra chromosome = nondisjunction.
2. One or more chromosomes have portions deleted =
deletion.
3. One or more chromosomes have portions duplicated =
duplication.
4. One or more chromosomes have portions moved to
another chromosome = translocation.
5. One or more chromosomes have portions rearranged in
reverse orientation on the same chromosome =
inversion.