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STUDY GUIDE - UNIT 7 (Chapter 7): DNA Detective - Complex Patterns of Inheritance
and DNA Fingerprinting

7.1 Forensic Science

What types of questions does forensic science attempt to answer?

What types of forensic evidence were unavailable for scientists studying the case of the
Romanovs? What modern forensic technique was finally used to solve the mystery of the
Romanovs?

7.2 Dihybrid Crosses

How many traits do dihybrid crosses involve?

In Mendel’s peas, what are the two alleles for seed color? Which color is dominant and which
color is recessive? What are the two alleles for seed shape? Which shape is dominant and which
shape is recessive? Are these two genes, seed color and seed shape, carried on the same
chromosome?

What would a totally heterozygous genotype for seed color and seed shape look like? How
many different types of eggs could be produced from this genotype? Note that each egg would
have to have one copy of each allele. Thus, an egg could not be “RR” or “Yy”? What are the 4
possible eggs (ovules) for YyRr? What are the 4 possible types of pollen (male) for YyRr?

Figure 7.1: How many boxes would a Punnett square contain to show a dihybrid cross of these
pea plants (YyRr x YyRr)?

[Note: you will not be asked to determine phenotypic and genotypic ratios for offspring
involving dihybrid parents. However, you will be asked to determine the genotypes of the
parents crossed, given the descriptions of their phenotypes. You must also be able to come up
with their possible gametes (e.g. eggs and sperm). You will have some practice problems in
your lab].

Figure 7.2a,b: These two figures review what you have already learned about random alignment
during Metaphase I of Meiosis I. You can see that the end result of meiosis gives us 4 different
types of gametes (eggs or sperm) for the genotype CcDd → CD, Cd, cD, and cd.

Figure 7.2c: Consider a cross between a straight-haired, dark-eyed person (ccDd) and a wavy-
haired, dark-eyed person (CcDd) -- or ccDd x CcDd. What are the possibilities for sperm for
ccDd? What are the possibilities for eggs for CcDd? [Note: you do not need to understand how
to determine the possible offspring of a cross between these two parents. In other words, you do
not have to complete the Punnett square and determine probabilities of offspring.]

7.3 Extensions of Mendelian Genetics


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Figure 7.3: Incomplete dominance - the dominant allele does not completely mask the effects of
the recessive allele. The only way to get the dominant trait is to have a homozygous dominant
genotype (RR). The heterozygous genotype (Rr) is a blending of the dominant and recessive
traits. The homozygous recessive genotype (rr) gives the recessive phenotype. See the examples
for the red, pink, and white snapdragon flowers.

Codominance - two or more alleles are equally dominant over a recessive allele.

Figure 7.5: In human blood groups there are actually 3 different alleles: 2 dominant alleles, IA
and IB, and one recessive allele (i). The alleles determine what types of “markers” (sugars) are
placed on each of an individual’s red blood cells. A person with type A blood has the “A”
marker, a person with type B blood has the “B” marker, a person with type AB blood has both
the “A”and “B” markers, and a person with type O blood has no markers (neither “A” nor “B”).

Summary of blood types. Note that IA and IB are both dominant to i. Thus, there are two ways to
get type A and two ways to get type B.

Genotypes Phenotypes

IA IA type A blood
IAi type A blood

IB IB type B blood
IBi type B blood

IAIB type AB blood

ii type O blood

Rh factor is another molecule found on the surface of red blood cells. Rh+ means that the
person has the Rh factor, Rh- means that the person does not have it. Unlike blood types, the Rh
factor is inherited in a straightforward manner: Rh+ is completely dominant over Rh-.

Genotypes Phenotypes

Rh+Rh+ Rh positive
Rh+Rh- Rh positive

Rh-Rh- Rh negative

[Note: you will not be asked to solve genetics problems involving blood types. Thus, you will
not need to know what the potential offspring would be from a cross between parents of two
particular blood types.]

If a child has alleles that are consistent with the blood type of the father, does this guarantee that
he is the father? Why or why not? Can blood typing be used to eliminate people from
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consideration (as far as being a match to a particular sample of blood)? Can blood typing be
used to positively identify someone as the parent of a particular child?

Table 7.1: What is the most common blood type in the U.S. population (including the reference
to its Rh factor)? What is the least common blood type?

What will happen a to person who receives a transfusion from a donor with an incompatible
blood group?

Table 7.2: Blood transfusion compatibilities. What is the only blood type that a person with type
O blood can receive? What blood type(s) can a person with type AB blood receive?

What is pleiotropy? What is hemophilia? What other effects are seen on the body due to the
excessive bleeding from this pleiotropic blood-clotting disease?

7.4 Sex Determination and Sex Linkage

Humans have 46 total chromosomes, or 23 homologous pairs of chromosomes (23 chromosomes


from each parent). 22 of those pairs are called autosomes (nonsex chromosomes). 1 pair is the
sex chromosomes. Males have an X and a Y (XY), whereas females have two Xs (XX).

Chromosomes and Sex Determination

Figure 7.6: Sex determination. What process produces the eggs and sperm. Which sex
chromosome(s) can sperm carry? Which sex chromosome(s) can eggs carry? Which parent can
carry the Y chromosome in their gametes, and thus ultimately determines whether or not a child
will be male? What is the genotype of a male zygote? What is the genotype of a female zygote?

Sex Linkage

What are sex-linked genes? Which chromosome is larger -- the X or the Y (figure 7.7)? Which
one carries very little genetic information?

X-Linked Genes

X-linked genes lead to X-linked traits. This means that the trait is carried by the X chromosome.

X-linked disorders affect males more often than females. This is because males cannot be
carriers (heterozygous). They cannot be carriers because they only have one X chromosome.
That means that in recessive genetic disorders that are linked to the X chromosome, the male
does not have the possibility of having 1 allele that is dominant (XA) and another allele that is
recessive (Xa). As you have already learned, a dominant allele would mask the affects of the
recessive allele. That happens for women but not men. See below:
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Males: Genotypes Phenotypes

XAY male with dominant allele


XaY male with recessive allele

Females: Genotypes Phenotypes

XAXA homozygous dominant female


XAXa heterozygous (carrier) female
XaXa homozygous recessive female

Note that the dominant allele for an X-linked trait is not shown as “A”. It is attached to the X
and shown as “XA”. Likewise, the recessive allele is shown as “Xa”. It is very important that
you use this notation when you solve genetics problems involving X-linked traits! Otherwise,
you will not get the correct answers.

Figure 7.8: X-linked hemophilia trait. (a) A non-hemophilic (normal) male has been crossed
with a female carrier of hemophilia. (b) a hemophilic male is crossed with an unaffected
(normal) female. Note that the problems are solved using a Punnett square in the same way that
you did in Chapter 7. The only difference is that the alleles are attached to the X chromosomes.
[You will solve some of these types of problems when you do your labs for this unit.]

Complete the Stop and Stretch 7.3 question (a suggested answer is in Appendix A in the back of
your book). Note: for her to have the disease, she must have two copies of the recessive allele.
How could that happen?

What is red-green color blindness? Is it X-linked or Y-linked? Do you think that males will be
affected more than females, based on what you know about X-linked traits?

What is X inactivation and why is it necessary (figure 7.9)? Does it affect males or females?
What causes the inactivation (what wraps around the X chromosome)?

Y-Linked Genes

Do Y chromosomes carry a lot of genes? Can Y-linked genes be passed on to daughters?

Complete the Stop and Stretch 7.4 question (a suggested answer is in Appendix A in the back of
your book).

7.5 Pedigrees

What is a pedigree?
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Figure 7.11: What does an open circle stand for? What does and open square stand form? What
does it mean if an open circle and open square are joined by a horizontal line? How are
offspring represented? What does an affected female look like? What does an affected male
look like? How are carriers shown?

Figure 7.12 (a): Dominant trait - Polydactyly (extra fingers or toes). Note that this is a dominant
trait. Thus, PP = polydactyly, Pp = polydactyly, but pp = normal. All the person needs is one
“P” to get the trait. What is the genotype and phenotype of the male at the top of the pedigree?
What is the genotype and phenotype of the female at the top? What are the sexes, and the
genotypes and phenotypes of their children (the second row from the top). Why are two carriers
(Pp), who of course would have polydactyly, able to have a child that does not have polydactyly?
Hint: do a Punnett square for Pp x Pp -- are any of the possible offspring “pp” or normal? Why
is it not possible for two normal people (pp), or without polydactyly, to have a child with
polydactyly? Hint: do a Punnett square for pp x pp -- are any of the possible offspring “PP” or
“Pp” (polydactyl)?

Figure 7.12 (b): Recessive trait - attached earlobes. Just look at the parents at the top along with
the left-hand side of the pedigree. Note how the recessive trait, attached earlobes, can skip a
generation. A cross between a parent who is unattached (Ff) with a parent who is attached (ff)
can make a child with ff or attached earlobes (do the Punnett square if you want to prove this for
yourself), but a cross between a parent who is unattached (FF) with a parent who is attached (ff)
cannot make a child who is ff or attached earlobes (do the Punnett square if you want to prove
this for yourself). However, the trait could show up again in the grandchildren, depending on the
genotypes of the mates of the offspring. [You will solve some of these types of problems when
you do your labs for this unit.]

Figure 7.12 (c): Sex-linked trait. We are going to skip this one.

Figure 7.13: We are also going to skip this one, but go ahead and look it over if you are
interested in the history of hemophilia in the Romanov royal family.

7.6 DNA Fingerprinting

An Overview of DNA Fingerprinting

What types of substances can scientists isolate DNA from? What are the “special molecular
scissors” used for? What does the “cutting” generate?

A Closer Look: DNA Fingerprinting

Figure 7.14: What is the Polymerase Chain Reaction (PCR) used for? What is the name of the
enzyme that is used to perform PCR (it acts as a DNA polymerase, which is an enzyme that you
learned about in Chapter 5 when you studied DNA replication)? What is the major difference
between taq polymerase and human DNA polymerase? What does it mean for a DNA molecule
to be denatured?
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What are restriction enzymes and what do they create when they cut DNA at specific sites?
Will two different DNA sequences, cut by the same exact restriction enzyme, lead to fragments
of identical sizes, or will the fragments be of different sizes?

Figure 7.15: Restriction Fragment Length Polymorphism (RFLP) Analysis. What are
RFLPs? What are variable number tandem repeats (VNTRs)? Do all humans possess the
same numbers of each VNTR in their DNA?

Figure 7.16: Gel Electrophoresis. What is the “solid support” or gelatinous medium for gel
electrophoresis called? What type of power source (current) is applied to the gel? Which are
more impeded by the gel: larger fragments or smaller fragments? (Hint: smaller fragments move
through the gel faster than the larger fragments) How is gel electrophoresis defined?

[Thus, gel electrophoresis separates DNA fragments based on their size. Smaller (lighter) DNA
fragments will move farther in the gel than larger (heavier) fragments.]

Figure 7.16 (a): Note that in gel electrophoresis, the negatively charged DNA fragments move
toward the positive pole of the electrophoresis chamber containing the agarose gel. Positive
attracts negative!

What must be done for further analysis of the DNA fragments? What tool is used to remove the
DNA from the gel? Why is the filter paper treated with chemicals that break hydrogen bonds?

What is a probe? What property of a probe makes it a good “label” for viewing on a
photographic film (being radioactive or nonradioactive)?

[The specific banding pattern that is produced makes up the DNA fingerprint.]

Figure 7.17: Must each band produced in a DNA fingerprint of a child be present in the DNA
fingerprint of at least one of that child’s parents?

Figure 7.18: Note that bands are compared across the horizontal plane. If two bands are in the
same horizontal plane, then they match!

Continue to read about the Romanov family, if you are interested in their history, but note that
you will not be tested on the rest of the chapter (pp. 190-191).

Complete the Learning the Basics (only do #1-8, however) on pp. 194-195. Suggested answers
are in the back of your book in Appendix A.

Copyright© 2010. Robert Wakefield. All rights reserved. To request permission to use materials contained on this
website please send an email to Robert Wakefield at rwakefield@pima.edu