Note: All your answers to questions must be in Red or other color (not

including blue) for easier grading. Points will be deducted if you do not
distinguish your answers.

Lab 12. Human Genetics

Objectives:
 Determine the genotype by observation of individuals with given traits and
their relatives.
 Determine inheritance involving autosomal dominant, autosomal recessive
and x-linked recessive alleles.
 Determine inheritance involving multiple allele inheritance and use blood
type to help determine paternity.
 Describe a normal human karyotype and discuss the various abnormalities
that can be detected using this technique
 Using a karyotype analyze a patient’s chromosomes to determine if
inheritance is normal or a chromosomal anomaly is present.
 Analyze a pedigree to determine the pattern of inheritance for an allele –
autosomal dominant, autosomal recessive or x-linked recessive.
 Create a pedigree to determine the probability of inheritance of a particular
phenotype when given generational information only.

Vocabulary:
 Genotype
 Phenotype
 Autosomal dominant
 Autosomal recessive
 Heterozygous
 Homozygous
 Probability
 X-linked recessive
 X-linked dominant
 Multiple alleles
 Codominance
 Karyotype
 Pedigree

Introduction:
Just like in pea plants, Mendel’s laws of inheritance also apply to humans.
Humans inherit 46 chromosomes that occur in 23 pairs, 22 pairs of autosomes and
one pair of sex chromosomes (either XX or XY). This means that all autosomal
genes exist in two forms, called alleles. These alleles may be genetically identical,
called homozygous (AA or aa) or they may be genetically different (Aa or aA). The
fact that one allele may be dominant over the other determines what phenotype is
exhibited. Dominant alleles are represented by capital letters (A) and recessive
are represented by lower case (a). Thus, you can have homozygous dominant
(AA) or homozygous recessive (aa) and of course heterozygous (Aa).
When a gene follows Mendel’s laws of inheritance (MOST genes do not), it is
easy to predict the ratios of potential offspring using Punnett squares, or for
example to determine the genotypes of parents from the genotype or phenotype of
the offspring. In this section of the lab, we will practice determining the genotype
given information about the gene and inheritance of it.

Part 1: Determining Genotype

Table 1 shows several autosomal human traits and indicates which is
dominant and which is recessive. Fill out Table 1 and answer the following
questions. (If you are not sure what the trait looks like, refer to Figure 1-5, or you
can do a quick internet search for an image of that trait.)

Figure 1: Left – Widow's peak (dominant) versus Right– straight hairline (recessive).

Figure 2: Left – No Hitchhiker’s thumb (dominant) versus Right– Hitchhiker’s thumb (recessive).

Figure 3: Right – attached earlobes (recessive) versus Left– unattached earlobes (dominant).
Figure 4: Left– freckles (dominant) versus Right– no freckles (recessive).

Figure 5: Left– dimples(dominant) versus Right– no dimples (recessive).

Trait Possible Your Your

(Capital letter – dominant allele) Genotype Phenoty Genotyp
(Lowercase letter– recessive allele) s pe e
Widow's WW
WW, Ww,
Widow’s peak – W Straight peak
ww
hairline – w
Earlobes unattached – U Earlobes UU
Earlobes attached – u UU, Uu, uu unattach
ed
Skin pigmentation: No ff
Freckles – F FF. Ff, ff Freckles
No freckles – f
Hair on back of hand – H Hair on hh
NO hair on back of hand – h the back
HH, Hh, hh
of the
hand
Dimples – D No dd
DD, Dd, dd
No Dimples – d Dimples
Polydactyly (more than 5 fingers) Five pp
–P PP, Pp, pp fingers
Five fingers – p
Thumb hyperextension – TT, Tt, tt Last tt
“hitchhiker’s thumb” segment
Last segment cannot be bent cannot be
backward – T bent
 Last segment can be bent backward
backward - t

Questions:
1. What is the homozygous recessive genotype for dimples? What is the
phenotype?
The dd without any dimples

2. Does an individual with Pp exhibit the symptoms of polydactyly (more

than 5 fingers)? Why or why not?
No, because the mutation is rare, some people may possess it without exhibiting any
symptoms.

3. What is the genotype for an individual who is heterozygous for a

hitchhiker’s thumb? Will they exhibit the phenotype for hitchhiker’s
thumb?
Tt, wouldn't display it, though.

4. Two people who are heterozygous for earlobes unattached have a child.
List the genotypes possible for their children regarding earlobe
attachment. Show your work. UU, Uu, uu

U u
U UU Uu
u Uu uu

5. Ryann does not have freckles, but both their parent’s do. Deduce the genotype
of their parents. What is Ryann’s genotype?
The parents Ff, Ryan ff,

6. Godric is heterozygous for widow’s peak and has no hair on the back of his hand.
His partner has a straight hairline and is heterozygous for hair on the back of
their hand.
a. What is Godric’s genotype? Ww, hh
b. What is his partner’s genotype? Ww, Hh
c. What possible genotypes will their children have for hair lines? Ww, ww
d. What possible genotypes will their children have for hair on the back of
the hand? Hh, hh
Part 2: A Taste of Genetics – Life Example with Taste

Every organism on Earth has a different way to perceive the world due
to their individual life experiences as well as their genetic make-up. Humans
are no different; every individual has their own experiences that shapes their
world perception but so too does their DNA. You may be surprised to learn
that 99.9% of the human genome is identical from one individual to the next,
and it is the 0.1% difference that makes each individual unique.

Some of these differences can affect our sensory systems and how we
perceive the natural world. For example, over time we have learned which
things taste good and are good for us while simultaneously learning which
things taste bad or are bad for us. Specifically, bitter compounds are closely
associated to toxic substances in nature. The way we know things taste
bitter, or any other flavor for that matter, is because we have special
chemical receptors in our mouth and nose that bind molecules in our food
and send signals to the brain telling it what the food tastes like.

Figure 6: A chemical binding a membrane receptor

One type of bitter receptor in our mouth senses the presence of a

chemical called phenylthiocabamide, or PTC. PTC is a non-toxic chemical, but
it very closely resembles toxic compounds often found in food. The unique
thing about PTC is that not everyone can taste it! We first learned this in the
1920s when Arthur L. Fox and C. R. Noller were working with PTC powder and
Noller complained about the extremely bitter taste while Fox tasted nothing
at all. This led to experimentation where scientists ultimately discovered the
ability to taste PTC was hereditary; it was in our DNA!

The ability to taste PTC comes from the gene TAS2R38 which encodes
one of the chemical receptors in our mouth that binds to PTC. By comparing
PTC tasters to non-tasters, scientists have found three single nucleotide
polymorphisms (SNPs) that differentiate the taster allele (T) from the non-
taste allele (t). A SNP is a genetic mutation where one nucleotide in DNA is
different from one individual to the next. The word mutation sounds scary,
but a mutation is not always bad; there are nearly 10 million SNPs in humans
which means SNPs are common. The three SNPs (see table 1) found in
the TAS2R38 gene leads to changes in the amino acid sequence which can
potentially change the proteins’ function.

Table 1: SNPs Present in Tasters vs Non-Tasters for PTC

Nucleoti Nucleotide Codon Change Amino Acid Change

de Change
Position
(bp)
Phenoty Non- Taste Non- Taster Non- Taster
pe Taster r Taster taster
145 G C GCA CCA Alanine Proline
785 T B GTT GCT Valine Alanine
886 A G ATC GTC Isoleucin Valine
e

Individuals who are tasters can be TT (homozygous dominant) or Tt

(heterozygous). Individuals who are non-tasters will always be tt
(homozygous recessive). To understand how the genes are inherited,
examine table 2 below where the potential offspring of two heterozygous
parents are analyzed. There is a 75% chance of having children that are
tasters for PTC and a 25% chance of having children that are non-tasters.
Table 2. Sample Inheritance Pattern for PTC Tasting
Parent
Alleles T T
TT (homozygous Tt (heterozygous
T taster) taster)
Tt
Tt (homozygous
t (heterozygous
non-taster)
taster)

In this section of the lab, you will use a set of data that was collected
from a previous class. This data has not yet been analyzed, therefore you will
have to sort through it and determine what conclusions, if any, can be made.
To collect this data, 35 participants were asked to place a strip of PTC
paper (paper coated with phenylthiocabamide) on their tongue. As soon as they
detected a taste, they were instructed to remove the paper and report what the
taste was, or if they never detected any taste. Those who reported that it was
extremely bitter, “to the point of almost not being able to take it” as several
commented, were also recorded. It is normal that some individuals who are tasters
are also much more sensitive to PTC and thus sense the bitterness much more
strongly than normal tasters. We call these individuals “Super tasters”.
Data:
Table 3: Results from one class (35 different individuals) who
conducted a PTC taste test.
Participa No Tasted Extremely Bitter (Super
nt Taste Bitter Taster)
1 x
2 x
3 x
4 x x
5 x
6 x x
7 x
8 x
9 x x
10 x
11 x
12 x x
13 x
14 x
15 x
16 x x
17 x
18 x
19 x
20 x
21 x
22 x
23 x
24 x x
25 x
26 x
27 x
28 x
29 x
30 x x
31 x
32 x
33 x x
34 x
35 x
Questions:
7. What is the total number of non-tasters in the class?
9
8. What is the percent of the class that are non-tasters of PTC?
25%
9. What is the genotype on non-tasters?
Tt
10. What is the total number of tasters in the class?
26
11. What is the percent of the class that are tasters of PTC?
74%
12. What is the genotype(s) of tasters?
TT, Tt
13. Given that some tasters are super-tasters, what is the percentage of
the class that are super tasters?
22%
14. Individuals that are known as “Super tasters” are thought to have more of
the protein which binds to and detects PTC on their tongues compared to
tasters. Given this information, what genotype do you think that Supertasters
are and why?
TT, as they are homozygous testers due to their increased sensitivity to PTC.

15. If two parents, one heterozygote and one homozygous dominant for
PTC tasting were to have children, what are all the possible genotypes
and phenotypes?
tasters that are homozygous for TT and heterozygous for Tt.

Part 3: Determining Inheritance

Figure 7: Two Punnett squares showing possible sperm on the vertical edge and possible eggs on the
horizontal edge. All boxes are filled in according to the alleles contributed by the sperm and egg. This Photo
by Unknown Author is licensed under CC BY 3.0

Recall that using a Punnett square allows you to determine all the
possible genotype combinations that offspring could inherit from two
parents. In a Punnett square all possible types of sperm are lined up on one
side of the square and all types of eggs are lined up on the other. Then the
squares are filled in according to what each sperm and egg would give to the
resulting zygote. By analyzing all the resulting genotypes, it is possible to
calculate the probability of each genotype occurring.

Figure 7 shows two Punnett squares with all possible sperm displayed
on the vertical edge and all possible eggs on the horizontal edge. All boxes
have been filled in according to the alleles contributed by the sperm and egg
for that box. We can now calculate the probabilities of each genotype and
phenotype. All probabilities are out of 4, as this is a 4 square box.
For the left Punnett square, the single box filled with genotype bb is
highlighted in red. As this is the only bb present it has a probability of 1 in 4,
¼, or 25%. This is both the genotypic and phenotypic ratio.
For the right Punnett square there are three boxes highlighted in red,
indicating the dominant phenotypes. Because there are three of the four
boxes the phenotypic ratio is 3 of 4, ¾, or 75%. This is not the genotypic
ratio however as there are two genotypes included in these three selected
squares. The genotypic ratio for that Punnett square would be a 1:2:1 ratio.

Questions:
16. Fill in the Punnett square:
a a
A Aa Aa
a aa aa
17. Refer to question 16 above.
a. What is the probability of having offspring with a genotype of aa?
50%
b. What is the probability of having offspring with a genotype of
AA?
0%
c. What is the probability of dominant phenotype?
0%

18. In guinea pigs, the allele for short hair is dominant to long hair.
 d. What genotype would a heterozygous short haired guinea pig
have?
Aa
e. What genotype would a homozygous short haired guinea pig
have?
AA
f. What genotype would a long-haired guinea pig have?
aa
g. Show the cross for two heterozygous guinea pigs.

A A

A A A
A a

a A a
a a

What percentage of the offspring will have short

hair? 75% long hair? 25%

19. In guinea pigs curly hair is dominant to straight. Show the cross
between two homozygous curly haired guinea pigs.
A A

A A A
A A

A A A
A A

What percentage of the offspring will have curly hair? 100%

20. Punnett squares can also be used to predict genotypes of the parents.
A guinea pig with short hair is crossed to one that has long hair. Over a
period of years, a scientist keeps records of the offspring and finds that 44
of them have curly hair and 46 of them have straight hair. Based on this
data, what are the genotypes of the parents:
Aa x aa
Show the Punnett square of this cross to explain your reasoning.
A a

a A a
a a

a a a
a a
 Genetic counselors are trained to detect inheritance patterns of genetic
diseases based on information they obtain from the family. Imagine that you
are a genetic counselor, and you must solve the following cases based on
the information provided. Use the following steps to solve each problem:

 Create a legend that indicates the gene pairs (alleles) involved. Use a
capital letter to denote the dominant allele and lowercase letter to
denote the recessive allele.
Example: D= dimples d= no dimples
 Write the genotype and phenotype of the parents. Example: DD →
dimples
 Use a Punnett Square to cross the potential gametes of the parents.
 Determine the probability based on the Punnett Square.
Autosomal Disorders:
21. Autosomal Recessive Inheritance (trait only expressed if
homozygous recessive)
An albino man (nn) marries a normally pigmented woman (N_) who has an
albino mother (nn). What is the chance that their children will be albino?
50%

22. Autosomal Dominant Inheritance (trait expressed as long as

one dominant allele is present)
A daughter wants to know what the chances are that she will develop
Huntington’s disease, a degenerative disorder of the nervous system that
appears during the ages of 30s to 40s. Her mother has Huntington’s while
her father does not have the disease. Try to determine the possibilities
from the information you have at hand. What further information do you
need in order to more accurately determine the probability?
That would be either 50% or 100%, but we would also need to determine if the mother is
homozygous dominant or heterozygous.

23. Autosomal Recessive Inheritance (trait only expressed if

homozygous recessive)
Cystic fibrosis (CF) is a recessive genetic disease that leads to persistent
lung infections reducing the ability to breathe over time. Patients with CF
have a mutation in the CFTR gene which prevents the movement of
chloride – a component of salt – across cell membranes. This makes
mucus in the body very thick and sticky so that it clogs airways and traps
bacteria. It also prevents digestive enzymes from releasing and causes
poor nutrition. CF is very most prevalent in Caucasians of northern
European ancestry. A carrier is a person who appears normal but carries
 the recessive allele for a disease. If two parents are both carriers (____) for
CF, what is the chance they will have a child with CF? 25%
24. Von Willebrand Disease is an autosomal dominant disorder (not located
on the sex chromosomes) where blood will not clot properly. What would
be the two possible genotypes of a person who has the disorder? Dd, dd
25. If a person is heterozygous for the trait (having the disease) is married
to a normal spouse (dd), what is the chance that their children will have
the disorder? 50%

X-Linked Disorders:
Recall that in many organisms, the determination of sex involves a pair
of chromosomes that differ in length and genetic content. These
chromosomes are called the sex chromosomes. Different organisms have
different systems. For today we will focus on the human system where males
are XY and females are XX. The X chromosome carries hundreds of genes
which are not necessary for sex determination but are necessary for correct
development and viability of the offspring. These genes are not present on
the Y chromosome and so display the characteristic pattern of inheritance
called sex-linkage or more commonly X-linkage.
Any XY individual that inherits an X-linked recessive disease allele
will be affected by it, because they do not have a second copy of the X
chromosome to provide a dominant allele. Therefore, in X-linked recessive
inheritance, XY individuals, commonly males, tend to be affected more
frequently than XX individuals, commonly females, in a population (see
Figure 8).

Figure 8: Some forms of color blindness are inherited as X-linked recessive traits.
Color blindness is diagnosed using tests such as this. Ishihara Test. (Wikipedia-
unknown-PD) (right) A pedigree consistent with XR inheritance. (Original-Deyholos-
CC:AN)
 The reverse is true for X-linked dominant inheritance, where the
gene responsible for the disease is located on the X-chromosome, and the
allele that causes the disease is dominant. In this case XX individuals, tend
to be more frequently affected than XY individuals in the population because
they have two copies of the X chromosome (see Figure 9).

Figure 9: Some types of rickets may follow an XD mode of inheritance. (Wikipedia-

Mrish-CC:AS) (middle and left) Two pedigrees consistent with XD inheritance.
(Original-Deyholos_CC:AN)

Keep in mind that in autosomal dominant and recessive traits, the sex
of the individual does not change the probability of being affected, because
all individuals have two copies of autosomes.

Questions:
26. In humans, hemophilia is a sex-linked trait. Females can be normal,
carriers, or have the disease. Males will either have the disease or not
(but they won’t ever be carriers).

XHXH = female, non-hemophilic

XHY = male, non-hemophilic

XHXh = female, carrier

XhXh = female, hemophiliac

XhY= male, hemophiliac

Show the cross of a man who has hemophilia with a woman who is a
carrier.

XH Xh
Xh XHXh XhXh
Y XHY XhY

What is the probability that their children will have the disease? 50%

27. A woman who is a carrier marries a non-hemophilic man. Show the

cross. What is the probability that their children will have hemophilia?
What sex will a child in the family with hemophilia be? 25% are men
28. A woman who has hemophilia marries a non-hemophilic man. How
many of their children will have hemophilia, and what is their sex? 50% are
men
29. The possible genotypes and phenotypes for an x-linked recessive
disorder color-blindness is as follows:

XBXB = female, normal vision

XBXb = female, carrier

XbXb = female, color blindness

XBY = male, normal vision

XbY= male, color blindness

Show the cross of a female carrier with a normal vision male.

XB Xb
XB XBXB XBXb
Y XBY XbY

What is the probability that their children will have color blindness? 25%

What gender will they be? Men

30. A woman with normal vision, whose father was color blind, marries a
man with normal vision. What genotypes are possible in their offspring?
50%

31. Calico is a coat color found in cats, which is caused by a SEX-LINKED,

CODOMINANT allele.
 Female cats can be black XBXB, orange XRXR, or calico XBXR
Male cats can be black XBY or orange XRY

A black male is crossed with an orange female

How many kittens are:

orange males? 50%

XB XR XR Y
calico females? 50%

XB XR XR Y

32. An orange male is crossed with a calico female. Show the Punnett
square and list the phenotypes and
proportions.

25% black male, 25% orange male, 25% calico female, and
25% orange female

33. A black male is crossed with a black

female. Show the Punnett square and list
the phenotypes and proportions.

Two black men and two black women

34. A black male is crossed with a calico female. Show the Punnett square
and list the phenotypes and proportions.

XB XR XR Y

XB XR
Part 4: Human Traits not Governed XR YMendelian Genetics
by
- Multiple Alleles and Codominance

There are many exceptions to

Mendel’s Rules. For example, blood types in
humans exhibit two exceptions:
codominance and multiple alleles.
 When a trait is controlled by multiple alleles, the gene will have more
than two possible alleles. However, each individual can still only ever have
two alleles, one from each chromosome given by their parents. The classic
example of multiple alleles is human blood types – A, B and O. The alleles
are denoted as: IA, IB, i. We do not use O to denote the allele, as O and o are
too similar and mistaking blood types is almost always fatal.
Red blood cells present antigens on their surface which act as passes
allowing the red blood cells to move through the body without being
mistaken for an intruders or pathogens. Individuals with the IA allele will have
the A antigen present on their red blood cells. The same for the IB allele,
which causes the B antigen to be presented. If a person has both the IA and IB
alleles their red blood cells will present both A and B antigens, this is called
codominance. Conversely, if an individual has the i allele their red blood
cells will not present any antigen. See Figure 10 below.

Figure 10: Representation of red blood cells and the antigens they carry. " Human
Inheritance" by LibreTexts is licensed under CC BY-NC-SA 3.0.

Table 4: Basic Genotypes, Antigens and Blood types of Humans

Genotypes Antigens on Blood Blood Type

Cells
IAi , IAIA A A
IBi, IBIB B B
IAIB A and B AB
ii None O

Questions:
35. If two individuals with blood type AB marry, what are the odds that
each of their children will have the AB blood type? 50%

36. A disputed paternity case! Hermione’s new baby has a blood type of O.
Her blood type is B and Ron Weasley’s is A. Harry Potter (blood type AB)
insists he is the child’s father. CAN THIS BE TRUE?

Half of the babies have Type O. That being said, there would have been little chance of being
Type O if the father had been AB.

37. A woman and her son are both blood type O. The woman claims that a
man with blood type A is the father of the boy. Is this possible? Explain
your answer.

Although there is a 25% chance that the child will be Type O, the father makes Type A more
likely.

38. In a recent case in Spokane, Washington, a woman claimed a man was

the father of her child. The man denied it. The man’s lawyer demanded
that blood types be taken to prove the innocence of his client. The
following results were obtained: Alleged father, Type O. Mother, Type A.
Child, Type AB.

a. What are the possible genotypes for these three people?

Childs: AB
Mother: AA, AO
Father: OO
b. Do you agree with the court’s decision? Why or why not?
No, since the B allele is absent from the parents. The parent of the B allele was
distinct.

39. It was suspected that two babies had been exchanged in a hospital.
Mr. and Mrs. Jones received baby #1 and Mr. and Mrs. Simon received
baby #2. Blood typing tests on the parents and the babies showed the
following:
1. Mr. Jones: Type A
2. Mrs. Jones: Type O
3. Baby #1: Type A
4. Mr. Simon: Type AB
5. Mrs. Simons: Type O
6. Baby #2 Type O

Were the babies switched? Do you know this for sure?

Part 5: Identification of Chromosomes and Chromosomal
Abnormalities Using Karyotypes

Although Mendel is referred to as the “father of modern genetics,” he

performed his experiments with none of the tools that the geneticists of
today routinely employ. One such powerful cytological technique is
karyotyping, a method in which traits characterized by chromosomal
abnormalities can be identified from a single cell. To observe an individual’s
karyotype, a person’s cells (like white blood cells) are first collected from a
blood sample or other tissue. In the laboratory, the isolated cells are
stimulated to begin actively dividing. A chemical called colchicine is then
applied to cells to arrest condensed chromosomes in metaphase. Cells are
then made to swell using a hypotonic solution, so the chromosomes spread
apart. Finally, the sample is preserved in a fixative and applied to a slide.

The geneticist then stains chromosomes with one of several dyes to

better visualize the distinct and reproducible banding patterns of each
chromosome pair. Following staining, the chromosomes are viewed using
bright-field microscopy. A common stain choice is the Giemsa stain. Giemsa
staining results in approximately 400–800 bands (of tightly coiled DNA and
condensed proteins) arranged along all of the 23 chromosome pairs. An
experienced geneticist can identify each chromosome based on its
characteristic banding pattern. In addition to the banding patterns,
chromosomes are further identified on the basis of size and centromere
location. To obtain the classic depiction of the karyotype in which
homologous pairs of chromosomes are aligned in numerical order from
longest to shortest, the geneticist obtains a digital image, identifies each
chromosome, and manually arranges the chromosomes into this pattern.

At its most basic, the karyotype may reveal genetic abnormalities in

which an individual has too many or too few chromosomes per cell.
Examples of this are Down Syndrome, which is identified by a third copy of
chromosome 21, and Turner Syndrome, which is characterized by the
presence of only one X chromosome in women instead of the normal two.
Geneticists can also identify large deletions or insertions of DNA. For
instance, Jacobsen Syndrome, which involves distinctive facial features as
well as heart and bleeding defects, is identified by a deletion on chromosome
11. Finally, the karyotype can pinpoint translocations, which occur when a
segment of genetic material breaks from one chromosome and reattaches to
another chromosome or to a different part of the same chromosome.
Translocations are implicated in certain cancers, including chronic
myelogenous leukemia.
Figure 11: A human karyotype: This karyotype is of a male human. Notice that
homologous chromosomes are the same size, and have the same centromere
positions and banding patterns. A human female would have an XX chromosome
pair instead of the XY pair shown.

Key Points:

 A karyotype depicts the number, size, and any abnormalities of the

chromosomes in an organism.

 A normal human karyotype contains 23 pairs of chromosomes: 22 pairs

of autosomes and 1 pair of sex chromosomes, generally arranged in
order from largest to smallest.

 The short arm of a chromosome is referred to as the p arm, while the

long arm is designated the q arm.

 A karyotype can be used to visualize abnormalities in the

chromosomes, such as an incorrect number of chromosomes,
deletions, insertions, or translocations of DNA.
Questions:
Analyze the karyotype above karyotype and determine if there is an
abnormality with the sex chromosomes.
40. What is the sex chromosome makeup?
41. Do a search of your results and determine what the syndrome the
patient had. Write it and some of its symptoms here.

42. Do a search of your results and determine what the syndrome the
patient had. Write it and some of its symptoms here.
Analyze this karyotype (above) and determine if there is an abnormality with
the sex chromosomes.
43. What is the sex chromosome makeup?
44. What syndrome does this individual exhibit?
a. Klinefelter syndrome
b. Turner Syndrome
c. Poly-X syndrome
d. Jacob syndrome
Part 6: Pedigree Analysis
Geneticists illustrate the inheritance of a gene within a family by using
a pedigree chart. In a pedigree chart, males are symbolized by a square (□)
and females are symbolized by a circle (○). People who are affected by a
condition or disease are symbolized by a dark/filled square or circle. Carriers
are often symbolized by a half filled square or circle.
The pedigree chart below shows the inheritance of albinism in three
generations of a family. The couple labeled 1 and 2 had five children,
including one albino daughter (5). One of the sons (3) and his wife (4) had
four children, including one albino son (6).

Questions:

45. You will write the genotypes of each individual who is labeled with a
number in the pedigree. Use 'A' to represent the dominant allele and 'a' to
represent the recessive allele. Begin by writing in the genotypes of 5 and
6. How do you know their genotypes?

46. Explain how you can determine the genotypes of 1 and 2. Include the
Punnett Square for these parents in your explanation. Write their
genotypes in the pedigree.

47. Write the genotypes of 3 and 4 in the pedigree.

48. Explain how you can figure out the genotype of 7 and write her
genotype in the pedigree.
Many other conditions are the result of homozygous recessive alleles, so
these conditions are inherited in the same manner as albinism. These
include:

 Cystic fibrosis (a genetic disease that results in difficulty in breathing

and serious illness)
 Phenylketonuria (a genetic disease that results in mental retardation
unless phenylketonuria is detected at birth and treated with a special
diet).

This pedigree shows the inheritance of a different condition called

achondroplasia (ay-kon-druh-play-zhuh), a form of dwarfism. Dark circles or
squares represent individuals with achondroplasia.

49. Think about 5 and 6 and their children. Based on this family, is the
allele that causes achondroplasia recessive or dominant? How do you
know? Include a Punnett square for 5 and 6 and their children in your
answer. Use 'D' to represent the dominant allele and 'd' to represent the
recessive allele.

50. Write the genotypes of 5 and 6 in the pedigree.

51. Write the genotypes of 2, 3 and 7 in the pedigree. How do you know
their genotypes?

52. Determine the genotypes of 1 and 4. Show a Punnett square and

explain your reasoning. Write the genotypes of 1 and 4 in the pedigree.

53. Most people who have the achondroplasia allele did not inherit this
allele from their parents. For a person who has the achondroplasia allele,
but did not inherit it from his or her parents, what biological process is the
most likely explanation for this person’s achondroplasia allele?

Licenses and Attributions:

 " Human Inheritance" by LibreTexts is licensed under notset .
 " A Taste of Genetics - PTC Taster" by Orange County Biotechnology
Education Collaborative, LibreTexts is licensed under CC BY-NC-SA .
Title taken from the lab developed by Embi Tec and used with
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 Biologycorner by Shannan Muskopf is licensed under a Creative
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License.
 " Inferring the Mode of Inheritance" by Todd Nickle and Isabelle
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 " Identification of Chromosomes and Karyotypes" by LibreTexts is
licensed under CC BY-NC-SA 3.0 .
 By Dimitrios Athanatos, Christos Tsakalidis, George P Tampakoudis,
Maria N Papastergiou, Fillipos Tzevelekis, George Pados, and Efstratios
A Assimakopoulos -
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2769437/, CC BY 3.0
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 " Genetics Supplementary Document" by LibreTexts is licensed
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