Document 84
Document 84
Document 84
Genotype Phenotype
middle segment
Table 2 – Simple Mendelian Characteristics in Humans
Genetics Terminology
Any letter can be used to represent a characteristic. The first letter of the feature is frequently
used, such as T, for tasting PTC. The alleles for a single trait are written together with an upper
case letter representing the dominant allele and a lower case for the recessive.
Determining the variety of possible gametes a parent could produce requires understanding
Mendel's basic principles. Recall the principle of segregation, which states, in the formation of
the gametes, the paired heredity factors (pairs of alleles) separate, forming gametes with one or
the other of the factors. Therefore, one must examine each pair of alleles as each pair will
separate and go into separate gametes. For example, a heterozygous parent for tongue rolling
(Rr) could produce gametes with an R allele or an r allele.
If the problem you are working on involves more than one gene or characteristic (i.e., more
than one pair of alleles), then Mendel's second principle should be invoked. The principle of
independent assortment
states that differing traits will segregate independently of each other. If a parent were
heterozygous for tongue rolling and the ability to taste PTC, they would have the genotype of
RrTt. This person could produce the following gametes: RT, Rt, rT, and rt. The tongue rolling
allele pair segregates independently of the PTC tasting allele pair. Each gamete, however, will
only inherit one allele from each allele pair. When working with problems that involve more
than one trait, utilize a tree diagram discussed on the next page.
TABLE 3 – Examples of Gamete Formation
Parent Genotype Gamete 1 Gamete 2 Gamete 3 Gamete 4
Parent #1 − Aa A a A a
Parent #2 − BB B B B B
Parent #3 − DE DE DE DE
DDEE
Parent #4 − DE DE dE dE
DdEE
Parent #5 − DE De dE de
DdEe
If you have difficulty combining the alleles into gametes, you can utilize a tree diagram device.
To utilize this device, establish the individual's genotype, separate the first and second allele pair
and follow each branch to sum up, the alleles in the gamete.
Parent Separate 1st Separate 2nd Combine alleles along the line
=
d
e = de
Parent Genotype Separate 1st allele pair Separate 2 nd
allele
Separate 3 rd Combine
pair alleles along the line
allele pair to produce
individual gametes
F = DEF
As illustrated below, a tree diagram can also be used in problems involving 3 or 4
traits. f =DEf F = DeF
f = Def
F = dEF
DdEeFf
f = dEf
F = deF f = def Step 4 – Determine how the gametes could be combined to produce
offspring.
A simple way to determine the variety of offspring
Punnett
a breeding
squarepair
illustrating
of organisms
offspring
could produce is to utilize a
Punnett square. You draw a box or table with the number of rows and columns equal to the
variety of gametes the parents can produce. If a male and female were heterozygous (Aa) for a
trait, they both would be able to produce gametes with either the A allele or the allele. Draw a
table and place the female's gametes (the ova) along the top of the table and the male's gametes
(the sperm) along the left side of the table, as shown here to the right. Each cell or box within the
table represents a possible offspring these parents could produce. If the female's ovum with the
dominant A was fertilized with the male's Sperm sperm carrying the dominant A, a homozygous
dominant
offspring would be produced. If, however, the female's ovum with the recessive a was fertilized
with the male's sperm carrying the dominant A, a heterozygous offspring would be produced.
The four cells within this table or square represent the four possible offsprings these parents
could produce.
Many of you may not need to use the Punnett square when working with a simple hybrid
cross. However, it can be beneficial when attempting to determine offspring from mating
individuals with multiple characteristics, as illustrated below. In this illustration, the parents are
heterozygous for tongue rolling (Rr) characteristics and tasting PTC (Tt). Their genotypes would
be written as Rr Tt, and each parent could produce the following types of gametes: RT, Rt, rT,
and rt. The possible gametes are placed at the top and side of the square and then combined into
the potential offspring in the interior cells.
Step 5 – Calculate frequencies of offspring genotypes and phenotypes
Examine the interior cells of the Punnett square below, and it will display the variety of offspring
the parents can produce. Table 4 on the next page summarizes the offspring variation these
parents could generate.
Punnett square
illustrating offspring combinations - two traits (dihybrid cross)
Table 4 – Offspring Genotype and Phenotype Frequencies
Genotype Genotype Frequency Phenotypes Phenotypes
Frequency
1 = 1/16 = .0625 =
RRTT 6.25%
2 = 2/16 = .125 =
RRTt 12.5%
2 = 2/16 = .125 =
RrTT 12.5%
4 = 4/16 = .25 = 9 = 9/16 = .5625 =
RrTt 25.0% Roller, Taster 56.25%
1 = 1/16 = .0625 =
RRtt 6.25%
2 = 2/16 = .125 = 3 = 3/16 = .1875 =
Rrtt 12.5% Roller, Nontaster 18.75%
1 = 1/16 = .0625 =
rrTT 6.25%
2 = 2/16 = .125 = 3 = 3/16 = .1875 =
rrTt 12.5% Nonroller, Taster 18.75%
1 = 1/16 = .0625 = 1 = 1/16 = .0625 =
rrtt 6.25% Nonroller Nontaster 6.25%
Name Date
6. What kinds of gametes can be produced by an individual who has attached earlobes and
lacks mid-digit hair?
Attached earlobe- ee
Lack mid digit hair- hh
Parent genotype- eehh
Gametes – eh, eh, eh, eh.
7. What kinds of gametes can be produced by an individual who is heterozygous for two
traits, AaBb?
Parent genotype- AaBb
Gametes- AB, Ab, aB,
ab.
D- AbD
B d- aBd
a.
b. D- abD
d.- abd
10. What are the kinds of gametes that an individual a. can produce with the genotype
AaBbDDEe? (Use the space below to draw a tree diagram.) ABDE, ABDe, AbDE,
AbDe, aBDE, aBDe, abDE, abDe
E -ABDE
D
e. -ABDe
B E -ABDE
D
A e -ABDe
E -AbDe
D
b. e -AbDe
E -AbDE
D
e. -AbDe
E -aBDE
D
B e -aBDe
E -aBDE
a D
e. -aBDe
E -abDE
D
e. -abDe
E -abDE
b. D
e. -abDe
13. Assume that a female, who is heterozygous for blood type B (genotype I Bi), marries a man
who is heterozygous for blood type A (genotype IAi). They are interested in knowing the possible
blood types of their future children. (See page 2, Table 1 for a review of genotype notation used
in the ABO system.)
Use the Punnett square below to determine the possible genotypes of their offspring.
B i Ova
I
A A B IAi
I I I
i IBi ii
Sperm
e. What are the possible genotypes of the offspring? IAIB, IBi, IAi, ii
f. What is the frequency of each offspring genotype? ¼ = 25%
g. What are the possible phenotypes of the offspring?
Use the Punnett square below to determine the possible genotypes of their offspring.
A B OVA
I I
B A B B B
I I I I I
i IAi IBi
SPERM
m. What are the possible genotypes of the offspring? IAIB IBIB IAi IBi
n. What is the frequency of each offspring genotype? 25%
o. What are the possible phenotypes of the offspring?
Heterozygous blood type AB
Homozygous blood type B
Heterozygous blood type A
Heterozygous blood type B
p. What is the frequency of each offspring phenotype? 25%
Which of Mendel's principles is illustrated by the above problems?
Principle of Segregation
15. A couple is heterozygous for two features, earlobe attachment, and blood type.
Phenotypically, both the male and female parent have free-hanging earlobes and type A blood.
Use the Punnett square below to determine the possible genotypes of their offspring.
A i E e OVA
I
I
A A A
I I IA i IA E IA e
i IA i ii Ei ei
E IA E Ei EE Ee
e IA e ei Ee ee
SPERM
u. What are the possible genotypes of the offspring and their frequency?
IAIA -I/16, ii- 1/16, Ei- 2/16, ei- 2/16, EE-1/16, Ee- 2/16, ee- 1/16, IA I-
2/16, IAE- 2/16, IAe- 2/16,
v. What are the possible phenotypes of the offspring and their frequency?
17. Two breeding individuals are each heterozygous for tongue rolling and tasting
PTC. Use the Punnett square below to determine the possible genotypes of their
offspring.
Tt Rr OVA
Tt TtTt TtRr
Rr TtRr RrRr
SPERM
w. What is the frequency of offspring from the above mating that will a. be able to taste PTC
and be able to roll their tongue? 2/4= 50%
x. What is the frequency of offspring from the above mating that will b. not be able to taste
PTC and not be able to roll their tongue? 2/4= 50%
y. What is the frequency of offspring from the above mating that will c. be heterozygous for
both traits? 2/4= 50%
18. Two breeding individuals are heterozygous for earlobe attachment, mid-digital hair, and
Darwin's tubercle. What percentage of their offspring will not have mid-digital hair, not have
Darwin's tubercle, and not have attached earlobes? (Use the workspace below and the Punnett
square on the next page for this problem.)Types of gametes:father's - Ee, Hh, Pp mother's Ee,
Hh, Pp
Types of gametes: father’s EHP, EHp, EhP, Ehp, eHP, eHp, ehP, ehp Mother’s - EHP, EHp,
EhP, Ehp, eHP, eHp, ehP, ehp
Ee Hh Pp OVA
Ee EeEe HhEe PpEe
Hh HhEe HhHh HhPp
Pp PpEe HhPp PpPp
SPERM
19. You are a CSI (crime scene investigator) and are called to a murder scene at a residence in
Beverly Hills. Police are already at the scene along with a frantic man because his wife and son
are missing, and there is blood on the entryway floor. You collect blood samples, fingerprints,
and all other relevant data from the scene. You collect the husband's fingerprints and blood
samples to exclude his prints and blood from the remaining crime scene data. You send the
fingerprints and DNA off to the lab for analysis but process the blood yourself since blood typing
is a simple lab test. You find that the mother and the son both had type O blood, and the husband
had type AB. Your data may not tell where the mother and son are, but it does say something
significant about the relationships within this family.
z. What would you advise the police about this family?
I would advise the police that there is a possibility that the couple disagreed, discovering
that the child is not the father biologically since the AB blood group and the O blood group
only results in the A and B blood group. The child has the O blood group.
aa. What if the husband had type B blood?
The child might belong to the father since the child's blood group O can be derived from
parents with blood groups O and B
20. You arrive at another crime scene and observe the police breaking up a fight between two
men as a woman and her daughter watch and hysterically plead for them to stop. The woman's
husband screams that she has been cheating on him for years with this man, thus bringing the
paternity of their daughter into question. You ask them to volunteer samples for analysis. Again,
you send samples to the DNA lab for testing but use simple blood typing to promptly address the
husband's accusations. Using genetic information from a single locus can often result in
indeterminate results. Consequently, you decide to test the parties for both the ABO blood
antigen and MN systems. The MN blood system is another blood antigen system in the human
genome. Only two alleles at this locus are dominant, resulting in 3 genotypes for this gene
system: homozygous MM, homozygous NN, and heterozygous MN. This system would also
have three phenotypes: type M, MN, and N. Note that there is no recessive allele that can be
"hidden" in this system. Your tests yielded the following results.
Mother: O M Husband: B M
Mother: O M Husband: B MN
AB M
Offspring O M Accused man:
Remember, this type of data cannot prove fatherhood, but it can prove the lack of paternity ( that
is, someone is not the father of a specific child ).