BIOL*1090 W’23

Lecture 6

Test Cross and Pedigrees

Jan 25, 2023
 Test Cross

Since a heterozygote may have the same phenotype as the

homozygous dominant, a test cross may be performed to
determine the individual’s genotype.

In a test cross, the individual of unknown genotype must be

crossed with a homozygous recessive individual

e.g. a test cross involving an individual of the genotype D_

G_ would involve crossing this individual to one with the
genotype dd gg
Test Cross to identify the genotype
Unknown Tester
genotype genotype
D_G_ X ddgg

Consider each locus separately

IF Unknown is: THEN, the cross will result in:

DD Dd and 100% will tall

50% being Dd (tall)

Dd
50% being dd (dwarf)

Repeat for the other locus

 Switching Gears
(a little)
Pedigrees (Pierce 6.1 & 6.2)
Example of an autosomal dominant trait
 TABLE 6.1 Pedigree characteristics of autosomal recessive
traits
Autosomal Recessive Trait
1. Usually appears in both sexes with equal frequency.
2. Tends to skip generations.
3. Affected offspring are usually born to unaffected parents.
4. When both parents are heterozygous, approximately one fourth of the
offspring will be affected.
5. Appears more frequently among the children of consanguineous
marriages.
 TABLE 6.1 Pedigree characteristics of autosomal dominant
traits
Autosomal Dominant Trait
1. Usually appears in both sexes with equal frequency.
2. Both sexes transmit the trait to their offspring.
3. Does not skip generations.
4. Affected offspring must have an affected parent unless they possess a
new mutation.
5. When one parent is affected (heterozygous) and the other parent is
unaffected, approximately half of the offspring will be affected.
6. Unaffected parents do not transmit the trait.
 This is a Pedigree for Albinism (Alleles C and c)

What is the probability that T will be albino?

P1
F1

F2
1. From the pedigree, albinism appears to be a recessive trait
2. S is therefore homozygous recessive for c and she is affected.
By definition, S is not a carrier.
3. R has siblings with albinism, so there is some risk that R is a
carrier (heterozygous Cc)
4. The risk of T having albinism therefore depends on two factors:
the probability that R is a carrier AND the probability that R
transmits the c allele to T if he is.
 There is a 2/3 probability that R is a carrier

P1 Cross: Cc X Cc

C c • 3 of the 4 (3/4) of the

genotypes will be
unaffected.
C CC Cc
• But of these 3, only
c Cc cc the 2 heterozygotes
(Albinism) are carriers.

Thus, PR = Cc = 2/3 If R is CC, there is a 0% chance for him

to pass on the recessive allele and
therefore a 0% chance of T being albino.
Calculation for risk that child T has albinism:
The risk of T having albinism therefore depends
on two factors: the probability that R is a carrier:
PR(Cc) = 2/3
and the probability that R transmits the “c” allele
to T if he is: PR(c) = 1/2
Therefore:
PT(cc) = PR(Cc) x PR(c) x PS(c)
= 2/3 x 1/2 x 1
= 2/6
= 1/3
 What you should know:
Recessive or dominant?
Genotypes of A,B,C,D,E,G,I,J
Probability that H is a carrier
Probability that K will be affected

Gg Gg

Gg
G g

G GG Gg

g Gg gg
What is the chance this child (K) will
have the recessive trait?
‘I’ must be a heterozygote because her mother is homozygous
and therefore the chance of “I” passing on the recessive allele is ½

The parents of ‘H’ must both be heterozygous

since they have an affected daughter, but are not themselves affected

‘H’ therefore has a 2/3 probability of being a carrier and, if he is a

carrier, the chance of him passing on the recessive allele is ½

The probability that the child will have the trait is

PK(gg) = PH(Gg) x PH(g) x PI(g)

PK(gg) = 2/3 x 1/2 x ½

PK(gg) = 1/6
I must be a heterozygote because her mother is homozygous
and therefore the chance of her passing on the recessive allele is ½

The parents of H must both be heterozygous

since they have an affected daughter, but aren’t themselves affected

H therefore has a 2/3 probability of being a carrier and, if he is a carrier,

the chance of him passing on the recessive allele is ½

The probability that the child will have the trait is 2/3 x 1/2 x 1/2 =1/6

And the probability that the mom passes on her ‘g’ allele
Human Sex Chromosomes Almost none of the
genes in the X
chromosome have
counterparts in the Y
The tips of the arms of chromosome.
the X and Y
chromosomes share a X
small region of homology Y
(red).

We are only concerned with recessive

traits when it comes to sex-linkage.
 TABLE 6.1 Pedigree characteristics of X-linked recessive traits
X-Linked Recessive Trait
1. Usually more males than females are affected.
2. Affected sons are usually born to unaffected mothers; thus, the trait
skips generations.
3. Approximately half of a carrier (heterozygous) mother’s sons are
affected.
4. Never passed from father to son.
5. All daughters of affected fathers are carriers.
1. X-linked recessive alleles are expressed in males because males have only
one X chromosome.
2. A mutation is seen in the male’s phenotype because Y does not carry an
allele of this gene.
3. An X chromosome present in a male in one generation must be transmitted
to a female in the next generation, and in the generation after that can be
transmitted back to a male.

X X Y X
 Meiosis in a female
results in X-bearing eggs Segregation of the
only. Sex Chromosomes
1/2 1/2
Meiosis in a male X X
results in a 1:1 ratio
of X-bearing and Y-
X Eggs X
bearing sperm.

1/2

X X X X
X Female Female
Sperm
X Y
1/2

Y X Y X Y
Male Male

Random fertilization results in an expected ratio of

1/2 XX (female) and 1/2 XY (male) progeny.
Heterozygous Cross:
female carrier and
normal male
1/2 1/2

XX
Heterozygous
carrier female

Sperm X Eggs X

Among progeny
1/2 from a
heterozygous
X XX XX carrier female, half
Heterozygous female Homozygous female
of the daughters are
XY expected to be
Normal male
heterozygous
1/2 carriers and half the
sons are expected
Y XY XY to be affected.
Affected male Normal male
Affected male must
pass mutant X
chromosome to
daughter. 1/2 1/2

XX
Normal
female

Sperm X Eggs X

Among progeny
1/2 from a normal
female with an
X XX XX affected male, all of
Heterozygous female Heterozygous female
the daughters are
XY expected to be
Affected male
heterozygous
1/2 carriers and all of
the sons are
Y XY XY expected to be
Normal male Normal male normal.
X-linked Recessive Mutation in Humans
People with red–green color
blindness cannot see the Unaffected male
number 5 in this figure.
Unaffected female
Affected male

For a rare X-linked The heterozygous daughters

recessive trait, most of affected males can have
affected individuals affected sons.
are male.

The offspring of an affected

male are usually not affected.

The sisters of an affected male

can have affected sons.
Assume X-linked recessive trait

Figure out:
1) Probability that I-1 is a carrier
2) Probability that I-1 passes on
the mutant allele to II-3
3) Probability that II-3 is a carrier
4) Probability that II-3 will pass on
the mutant allele to III-1
5) Probability that III-1 is a carrier
6) Probability that III-1 passes on
the mutant allele to IV-1 (?)
7) Probability that III-2 passes on
the Y-chromosome to IV-1 (?)

!
 In this pedigree, II-1 is affected with X-linked hemophilia. If III-
1 and III-2 have a child, what is the risk that the child will have
hemophilia?

I-2: father does not

have it, so mother (I-1)
must be a carrier.

OR
II-3:
1/2 1/2

!
Probability that II-3 inherits the bum allele is ½ and if she is a carrier, the probability
that she passes it on to her daughter (III-1) is ½ and if this daughter is a carrier, the
probability that she passes it on is ½. If they have a boy, his chance is (½ X ½ x
½)= 1/8. If they have a girl, there is 1/8 chance that she is a carrier. What are the
chances they have a boy? ½. So the overall chance that they have a child with
hemophilia is 1/16 (1/8 X ½).
 Review
• Dominant vs Recessive
• Gametes (sex, germ) vs somatic (stem) cells
• Mendel’s Principles
– Dominance; Segregation; Independent
Assortment
• Genotypes versus Phenotypes
• Probabilities of inheriting a mutant allele
• Risk of having a child with a recessive gene
• Sex linkage