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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.
2.
3.
4.
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.
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:
P
p
Alleles for parent #1
Pp
Pp
pp
pp
2 out of 4 = pp
or 50%
Ratio of Pp : pp = 1 : 1
Pp x pp
The ratios of this cross are
1 : 1 Pp : pp, purple : white
F1 generation: Pp and pp
(Purple) (White)
Pp
Pp
Pp
Pp
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)
Ratio
PP : Pp :
pp
1:2:1
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
yr
yr
yr
YR
YR
YR
YR
Alleles for parent #1
yr
yr
yr
YyRr
YR, Yr, yR, yr
YR
Yr
yR
yr
YR
YYRR
YYRr
YyRR
YyRr
Yr
YYRr
YYrr
YyRr
Yyrr
yR
YyRR
YyRr
yyRR
yyRr
yr
YyRr
Yyrr
yyRr
yyrr
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).
RR
RR
RR
RR
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.
Epistasis:
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.
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)
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
bv
bv
bv
BV
bv
bbvv
or 50% = BbVv
bbvv
bbvv
bbvv
or 50% = bbvv
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
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
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
= 5.99
Step 6: Compare the calculated 2 value with that on the chart
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
Xh
XHXh
XhXh
XHY
XhY
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.