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Transcript
BIO152 Genetics problems
Tutorial 8
November 10
11/9/2006
1
Tutorial 8 outline
11/9/2006
2
1
Free lunch for your feedback
Lecturer candidates for concurrent Teacher Ed
Program starting UTM fall 2007
3 lunch seminars 12-1:30 Must attend at least 2
Tuesday Nov 14 &Thursdays Nov 23 & 30
Must attend at least 2
Complete Feedback form
Email [email protected]
11/9/2006
3
Lec 17-Question 3
A B/a b x ?? for testcross
(what is the testcross_________).
If the two loci are 10 m.u. apart, what
proportion of progeny will be A B/a b?
11/9/2006
4
2
3- answer
You perform the following cross and are told that
the two genes are 10 m.u. apart.
A B/a b x a b/a b
Among their progeny, 10 percent should be
recombinant (A b/a b and a B/a b) and 90
percent should be parental (A B/a b & a b/a b).
Therefore, A B/a b should represent 1/2 of the
parentals or 45 percent.
11/9/2006
5
Lecture 17-Question 4
R and S are loci 35 m.u. apart. If the plant
of genotype R S/r s is selfed, what
progeny phenotypes will be seen and in
what proportions?
(once you know the genotype you can
determine the phenotype proportions)
11/9/2006
6
3
4- answer
P
R S/r s x R S/r s
gametes
genotypes & expected
proportions:
1/2 (1 – 0.35)R S parental
1/2 (1 – 0.35)r s
parental
1/2 (0.35) R s recombinant
1/2 (0.35) r S recombinant
11/9/2006
7
4-Answer continued F1
genotypes
0.1056 R S/R S
0.1056 r s/r s
0.2113 R S/r s
0.1138 R S/r S
0.1138 R S/R s
Phenotypes
0.6058 R S
0.1056 r s
0.1444 R s
0.1444 r S
11/9/2006
0.1138 r s/r S
0.1138 r s/R s
0.0306 R s/R s
0.0306 r S/r S
0.0613 R s/r S
8
4
Pedigree from Lec 16
I
II
III
IV
If dominant what is the chance that III6 will have
affected children?
If recessive who are obligate carriers
(heterozygous)
11/9/2006
Who are at risk of being carriers?
9
I
II
III
IV
If dominant what is the chance that III6 will have affected children?
zero
If recessive who are obligate carriers (heterozygous)
I2,
II1, II5, II6, II8,
III1, III2, III4, III5, III6, III7,
IV1
Who are at risk of being carriers?
III11, III12 all with chance 50%
11/9/2006
III10,
10
5
Construct a pedigree (Lec 16)
Alice and Bob have a two year old son, Charles, who is showing mental
retardation, short stature, micropenis, and cryptorchidism.
Alice has two living, unaffected, brothers but her eldest brother died at
age 9 and a second brother died aged 10 months. Both had similar
problems to Charles.
Alice's father, David, who was symptomless, has a sister, Ethel, who
has an unaffected boy and girl, and a brother, Fred, who also has
two unaffected children.
Alice's mother, Gertrude, has two living sisters and had a brother who
had died in childhood and who, she remembers, had been mentally
retarded.
Bob has two brothers, Henry and Ignatius, who are still unmarried. His
parents, John and Kate, had tragic lives, both were adopted and
never knew their biological parents and both died as the result of a
road accident.
11/9/2006
11
Nuclear family in question
A = Alice mom
B = Bob dad
C = affected son
Charles
11/9/2006
• Step 1
12
6
Alice’s (A) family
Alice & her 4 brothers are
connected vertically to a
horizontal line which is, in turn,
connected to the line drawn
between her parents David
and Gertrude.
Her two dead brothers (whom we
presume died of the same
genetic disease - though this
can sometimes be a foolish
assumption without medical
evidence) are shaded in (to
show that they suffered from
the disease) and are crossed
through (to show that they are
dead).
Step 2
11/9/2006
13
Construct a pedigree-Step 3
• Now add (Alice’s mother) Gertrude's
siblings to the pedigree.
• And (Alice’s father) David's siblings and
his nephews & nieces
• Finally add Bob's side of the family
11/9/2006
14
7
What is the most likely pattern?
11/9/2006
15
(Lec 16) Inheritance pattern?
#1
11/9/2006
16
8
answer
#1autosomal dominant
11/9/2006
17
(Lec 16) Inheritance pattern?
#2
11/9/2006
18
9
Answer
#2 autosomal recessive
I3 & I4 must be carriers
to have an affected
son
Affects both sexes
equally
11/9/2006
19
#3
www.langara.bc.ca/.../mario/Assets/pedigr
ee3.gif
11/9/2006
20
10
#3 autosomal recessive
www.langara.bc.ca/.../mario/Assets/pedigr
ee3.gif
11/9/2006
21
What is the most likely pattern of
inheritance?
Autosomal recessive ?
Autosomal dominant ?
X-linked recessive ?
11/9/2006
22
11
answer
Autosomal dominant:
• roughly half of the offspring of affected persons
are themselves affected,
• that every affected person has an affected
parent
• X linkage is ruled out by male to male
transmission.
• the other two answers were possible but
unlikely.
11/9/2006
23
Probability of Autosomal recessive
• three people half shaded would all need to be
carriers marrying into the family. This is possible
but how likely it is depends on the frequency of
carriers in the population.
• disease affects one birth in 10,000 how frequently
will random members of the population turn out to
be carriers?
11/9/2006
24
12
To calculate the frequency of carriers of a condition with a
frequency of homozygotes of one in 10,000 you need to
use the Hardy Weinberg formulae:
P2 +2pq + q2 =1 p+q =1
q2 = 1/10,000 = .0001 q= .01 p= .99 2pq=.02
So in that case the likelihood of three
carriers is approximately (1/50)3 which is 1
in 125,000 which is unlikely
11/9/2006
25
Probability of X linked recessive?
Which of these two facts argues more strongly
against X linkage?
1. The transmission of the condition from
male to male, (I3 to II7)
2. The transmission of the condition to
females
11/9/2006
26
13
1. The transmission of the condition from
male to male, (I3 to II7)
it is almost impossible for a father to pass
his X chromosome to a son, and
certainly not to a fertile son.
[two possible exceptions to this rule, XX
males and XXY Klinefelter's syndrome.
Both are rare and both are infertile.
11/9/2006
27
The transmission of the condition to
females
frequency of this genetic disease is1 in
10,000, how likely is it that a female
marrying into this family is a carrier of this
condition if it is X linked?
the disease frequency is 1 person in 10,000
is almost the same as saying 1 male in
5,000
use Hardy-Weinberg to estimate the
frequency of carrier females
11/9/2006
28
14
The gene frequency 1 in 5000 (q in the
Hardy Weinberg formula)
In the case of X linked genes, males come
in two types, normal and mutant, at
frequencies p and q. Females, who have
two X chromosomes, come in three types,
homozygous normal (frequency p2),
heterozygotes (frequency 2pq) and
homozygous mutant (frequency q2).
11/9/2006
29
if this gene is X linked then the frequency of carrier
females would be about 0.0004 or 1 in 2500
The two people half shaded must have been
heterozygotes. This is possible but not likely.
Chance would be about 1/2500 × 1/2500 which
is 1 in 6.25 million.
11/9/2006
30
15
Genetic questions posted for Tutorial 6
1.
A sexually reproducing organism is heterozygous for
two genes located on different chromosomes, one for
ear shape and one for toe length. Its genotype is
AaBb. Which of the following genotypes is most
probable in a gamete from this organism?
a.
b.
c.
d.
e.
AB
AaBb
Aa
Bb
A
11/9/2006
31
1-Answer
1.
A sexually reproducing organism is heterozygous for
two genes located on different chromosomes, one for
ear shape and one for toe length. Its genotype is
AaBb. Which of the following genotypes is most
probable in a gamete from this organism?
a.
b.
c.
d.
e.
11/9/2006
AB
AaBb
Aa
Bb
A
32
16
#5
#5. Two mice are heterozygous for albinism (Aa).
The dominant allele (A) codes for normal
pigmentation, and the recessive allele (a)
codes for no pigmentation. What percentage of
their offspring will show albinism?
a. 25 percent
b. 50 percent
c. 75 percent
d. 100 percent
11/9/2006
33
5-Answer
#5. Two mice are heterozygous for albinism (Aa).
The dominant allele (A) codes for normal
pigmentation, and the recessive allele (a)
codes for no pigmentation. What percentage of
their offspring will show albinism?
a. 25 percent
b. 50 percent
c. 75 percent
d. 100 percent
11/9/2006
34
17
#20
#20 A man and woman are both of normal
pigmentation, but both have one parent who is
albino (without melanin pigmentation). Albinism
is an autosomal (not sex-linked) recessive trait.
What is the probability that their first child will be
an albino?
A.
B.
C.
D.
E.
0%
1/8
1/2
1/4
100%
11/9/2006
35
Answer
#20 A man and woman are both of normal pigmentation,
but both have one parent who is albino (without
melanin pigmentation). Albinism is an autosomal (not
sex-linked) recessive trait. What is the probability that
their first child will be an albino?
A. 0%
B. 1/8
C. 1/2
D. ¼ (what about the 1st child albino AND a girl?)
E. 100%
What is the probability of their second child being an
albino?
11/9/2006
36
18
#7
#7 If the first five seeds (offspring) grown from a
cross between two heterozygous parent peas
with the genotype Rr are all round, what is the
probability that the next offspring will be
wrinkled?
a. 0%
b. 100%
c. 25%
d. Cannot determine from the information given
11/9/2006
37
7-Answer
#7 If the first five seeds (offspring) grown from a
cross between two heterozygous parent peas
with the genotype Rr are all round, what is the
probability that the next offspring will be
wrinkled?
a. 0%
b. 100%
c. 25%
d. Cannot determine from the information given
11/9/2006
38
19
#16 & #17
If an organism is heterozygous for two traits that are
linked, how many different genotypes are possible in
the gametes?
#16. Assume no crossing over occurs.
#17. if even a single crossing over event occurs?
a.
b.
c.
d.
1
2
4
8
11/9/2006
39
16&17-ANSWER
If an organism is heterozygous for two traits
that are linked, how many different
genotypes are possible in the gametes?
#16. Assume no crossing over occurs.
b. 2
#17. if even a single crossing over event
occurs?
C. 4
11/9/2006
40
20
Another problem…
Suppose two AaBbCc individuals are mated.
Assuming that the genes are not linked, what
fraction of the offspring are expected to be
homozygous recessive for the three traits?
A. 1/4
B. 1/8
C.1/16
D.1/64
E. 1/256
11/9/2006
41
Another problem…
Suppose two AaBbCc individuals are mated.
Assuming that the genes are not linked, what
fraction of the offspring are expected to be
homozygous recessive for the three traits?
A. 1/4
B. 1/8
C.1/16
D.1/64 [ ¼ x ¼ x ¼ ]
E. 1/256
11/9/2006
42
21
How many unique gametes could be produced
through independent assortment by an
individual with the genotype AaBbCCDdEE?
A. 32
B. 4
C. 16
D. 8
E. 1/64
[hint: apply the formula (2n), where n represents
the number of heterozygous gene pairs.]
11/9/2006
43
Hint
apply the formula (2n), where n represents
the number of heterozygous gene pairs.
Aa BbCCDdEE = 23 =8 possible unique
gametes
11/9/2006
44
22