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Basis of Complex Traits
Genetic and Environmental Basis of Complex Traits
By the time you take the first midterm you should also be able to:
• Evaluate whether a specific SNP or VNTR is associated with a specific disease
• Interpret experiments to determine the relative influences of genes and the environment on a given
phenotype
• Evaluate how genes and the environment can interact to produce a phenotype
• Relate trait values of offspring to parents to identify heritability of traits
• Predict how chromosome numbers in a gamete may vary depending on non-disjunction during meiosis
Start Monday
Case 3 and 15.3
You from A to T:
Your Personal Genome
How do genetic markers help us study diseases?
Are diseases like cancer heritable?
SNPs, RFLPs,
VNTRs can all
act as genetic
markers
Marfan syndrome is a connective tissue disorder with an autosomal dominant
inheritance pattern. The affected gene (FBN1) is very large, so sequencing the gene
to look for mutations is not practical. Instead, you have identified two VNTR regions
(A and B) very close to the FBN1 gene that can be readily analyzed using PCR. You
test the two VNTR regions to see if there are any alleles that are linked to mutant
alleles of the FBN1 gene. Your results are shown below.
III B2
1 2
Text
Marfan syndrome is a connective tissue disorder with an autosomal dominant
inheritance pattern. The affected gene (FBN1) is very large, so sequencing the gene
to look for mutations is not practical. Instead, you have identified two VNTR regions
(A and B) very close to the FBN1 gene that can be readily analyzed using PCR. You
test the two VNTR regions to see if there are any alleles that are linked to mutant
alleles of the FBN1 gene. Your results are shown below.
Which allele, if any, would you use as a genetic marker to test for the
presence of mutated FBN1?
A. A1 B. A2 C. B1 D. B2 E. None of these
The affected should have the same alleles!
I-1 I-2 II-1 II-2 II-3 III-1 III-2
I
1 2
B1
A1
II
1 2 3 A2
III B2
1 2
Individuals II-1 and II-2 are expecting their third child. They visit a
genetic counselor, who conducts a VNTR analysis on the fetus, the
couple, and their children. The VNTR analysis is shown below. Is the
fetus predicted to be affected by Marfan syndrome?
A. Yes B. No
The fetus does not have A2; does not appear the child have the marker; already discussed that A2 is marker
Not always true because of cross-over
II-1 II-2 III-1 III-2 fetus
I
1 2
B1
A1
II
1 2 3 A2
III B2
1 2
Individuals II-1 and II-2 have their third child and he has
Marfan syndrome. How could this have happened?
Discuss with your neighbor.
Marker chosen is the close to the gene!
III B2
1 2 3
Single Nucleotide Polymorphisms (SNPs)
can be used as genetic markers
Individual 1
Individual 2
The pedigree below shows the inheritance of
an autosomal dominant trait linked to a SNP.
A. T
B. G
C. Cannot be
Pretty good marker but not 100% because of that T/G determined
Cross-over!
The pedigree below shows the inheritance of
an autosomal dominant trait linked to a SNP.
A B C D E
Answer: D
The Genetics of Cancer
Accumulation of
somatic mutations in
proto-oncogenes and
tumor suppressors
can lead to cancer
Cancer can be sporadic or heritable
The “two hit hypothesis” model
(could have 2 random mutations)
A. 0
B. 1/8
C. 1/4
D. 1/2
E. 1
Mark A for True or B for False:
How is this as an
If instead of the scenario shown om the alternative?
figure, no nondisjunction occurred in meiosis
I but a nondisjunction occurred in one cell at
meiosis II, how many gametes would have an
incorrect number of chromosomes?
Text
A. 0
B. 1
C. 2
D. 3
E. 4
When a nondisjunction occurs at meiosis I, all of the
gametes produced end up with an incorrect number of
chromosomes (see figure below). If a nondisjunction
occurred in one cell at meiosis II instead, how many
cells will have an incorrect number of chromosomes?
A. 0
B. 1
C. 2
D. 3
E. 4
When a nondisjunction occurs at meiosis I, all of the
gametes produced end up with an incorrect number of
chromosomes (see figure below). If a nondisjunction
occurred in one cell at meiosis II instead, how many
gametes will appear like the gamete outlined below?
A. 0
B. 1
C. 2
D. 3
E. 4
Turner Syndrome Karyotype
Consider the pedigree below from a human family. The affected male
has Klinefelter syndrome, a genetic condition that results when a
child is born with XXY chromosomes. In each, A and B refer to
codominant alleles of the X-linked G6PD gene. The phenotypes of
each individual (A, B, or AB) are shown in the pedigree.
• Environmental variation:
Due to differences in environment
Examples:
• sun exposure
• moisture levels
• access to food
Genes vs. Environment
Which of the following genotypes
show differential responses to
changes in the environment?
A. Genotype A
B. Genotype B
Phenotype
C. Both Genotype
A and B
Environment
What if the line is flat? Discuss with
your neighbor what this may indicate
about the genotype and phenotype?
Phenotype
Environment
Mice with the same mutation in a
gene show variability in cholesterol
levels with differences in diet
Norm of Reaction: How environment affects phenotype
across a range of environmental
conditions, shows evidence of
phenotypic plasticity for a genotype
Example: Example:
Hydrangea color
determined by
pH of the soil
changes with the environment
Acidic = blue
Alkaline = pink
Most traits we see are not the result
of expression of a single gene
Regression Model Activity
Chapter 18
The Genetic and Environmental Basis
of Complex Traits
Let’s consider the beak’s of finches
not heritable
15.4
A little bit of review and
some extensions of
Mendel before we move
onto evolution next week
What happens when multiple genes
affect the same phenotype?
What ratio of white to
brown (pigmented) chickens
would you expect to observe
in the F2 generation?
A. 15:1 white:brown
B. 12:4 white:brown
C. 13:3 white:brown
D. 9:7 white:brown
E. 1:1 white:brown
ABO Blood Groups: Co-Dominance
Phenotype is determined by combination of three alleles:
IA (co-dominant), IB (co-dominant), and i (recessive)
Blood Group: A B AB O
(phenotype)
A. AB x O
B. A x O
C. A x AB
D. O x O
E. More codominant
than one
of the
above
Suppose a child is blood group O. Which
of the following pairs of individuals could
represent the parents of this child?
A. AB x O
B. A x O
C. A x AB
D. O x O
E. More
than one
of the
above
A human pedigree and the ABO blood groups
of some of the family members are shown
below. What is the genotype of individual I-1?
A. IAIB
B. IAi
C. IBi
D. ii
E. More than
one is
possible
A human pedigree and the ABO blood groups
of some of the family members are shown
below. What is the phenotype of III-2?
A. A
B. B
C. AB
D. O
E. More than
one is
possible
What if a single-gene trait has many alleles?
Hierarchy of dominance: C > ck > cd > ca
A Black
CC
B Sepia
ckck C Cream
cdcd D Albino
caca
ca ca ck ca ca ca ck ca
Consider the guinea pig pedigree below. Recall the hierarchy
of dominance for the four coat color alleles is C > ck > cd > ca
and the colors of the homozygous genotypes are as follows:
CC = black, ckck = sepia, cdcd = cream, caca = albino
D. 1/32
E. Need more
information