Lecture 3

In a species of birds with a ZW sex determination system, blue

beak is a sex-linked recessive trait and red beaks are dominant.
If a blue beaked male is mated to a red beaked female, which of the
following would you would expect to find among their
offspring ?



a) All progeny are red beaked.

b) All males are red beaked and all females are blue beaked.

c) All males are red beaked, half the females are blue beaked.

d) All females are red beaked, of the males are red beaked,
one half of the males are blue beaked.

e) Half the females are red beaked, half the males are red
beaked

Lecture 3: 
(1) The chromosomal theory of
inheritance provides a
mechanism that explains Mendels Laws and their
application in pedigree analysis, for example.



(2) When sample sizes are small or breeding designs are
inconvenient or impossible to use, the inheritance of
classical polymorphisms are most easily deduced in a family
pedigree, when breeding is monitored.



(3) Use the expected outcome of single gene crosses to predict
and interpret (independent) multiple gene crosses.

Memorize, Understand and Apply These Single gene, 2 allele Cross

Ratios

A_-dominant pointed leaf, aa round leaf



AA x aa = 1 genotype possible Aa,

1 phenotype (pointed)

AA x Aa = 2 genotypes : 0.5AA, 0.5 Aa 1 phenotype (pointed)

Aa x aa = 2 genotypes : 0.5Aa, 0.5 aa

2 phenotypes (pointed, round 0.5 each)

Aa x Aa = 3 genotypes : 0.5Aa, 0.25 aa, 0.25AA





2 phenotypes: 0.75 pointed, 0.25round

aa x aa = 1 genotype (aa),



1 phenotype (round)

AA x AA = 1 genotype (AA),
1 phenotype (pointed)

Pedigrees:



Using Mendelian genetics to deduce the
pattern of inheritance in a pedigree.

Affected vs. non affected -a classical

Mendelian character (categorical).

proband or propositus The first
individual affected in the pedigree .

Roman numerals: I, II, etc = generation

Arabic numerals: 1,2,3, ID children

males (square)and females (round).

The primary information is:
(1)affected sex, (2)affected proportion
of offspring, and (3) generation.

Expected Mendelian proportions are a
guide but small sample sizes means
high variation.

Pedigree symbols

Figure 2-28

Inherited diseases are typically rare in the general population,

but not within families hence the usefulness of a pedigree.

Note: it is assumed that
these married
individuals are not
closely related.

In the absence of
other information,
assume, the person
outside the pedigree
does not carry rare
genes or the
probability of being a
carrier is no higher
than the general
population.

If genotypes are known, it is not a question of probability.

Genotypes ?

(1?)

If unknown,
it is a
question of
probability

(.5)

(.5)

(.5)

.25AA
.25Aa

(.5)

.25aA
.25aa

Exact Mendelian (expected) ratios are generally not observed, any ratio
is possible and all are seen.

But, you can use the expected ratios to interpret frequencies in a
pedigree.

If you know the relationship between individuals, you can use expected
ratios to estimate probabilities of one outcome or another.

male

female
parents

Generation I

siblings

Generation II
1

Using Mendelian ratios to interpret genotypes and predict

human inheritance - pedigrees
8

Dominant or Recessive, Autosomal or Sex -Linked ?

Assume full dominance-recessive trait, rare condition

grandparents

I

II

parents
1

III

4

children

2

9

10

(1) An autosomal Mendelian recesssive pattern. The key observations are: (1) the disease
appears in the progeny of unaffected parents, or the effect may skip generations. (2) the
affected progeny are both males and females and they are affected in equal proportions

(2) Autosomal Dominant disorders are implicated when (1) the (mutant) phenotype appears
in every generation; (2) affected fathers and mothers transmit the character to both sons and
daughters - in equal proportions.

(3) Sex - related characters: X linked recessive ( 1) more males than females show the character
because they are hemizygous - only 1 X chromosome (2) The male offspring of an affected
male and his descendents are not affected. (3) Half the sons of carrier daughters are affected,
or the effect skips generations. X - linked color blindness, hemophilia and Duchenne
Muscular Dystrophy are well known examples.

(4) X-linked Dominant disorders: they have the following characteristics: (1) affected males
pass the character to their daughters but not their sons. (2) affected heterozygous females
married to unaffected males pass the condition to half their sons and daughters. (3) thus
more females than males will show the trait.

(5) Y - linked traits only show up in males and are expressed every generation. Many of
these traits are related to male sex expression. Otherwise there are not many genes on the Y
chromosome and they are not implicated in well known diseases.

(6) Mitochondrial traits are passed from mother to daughter and son, but an affected
son never transmits the trait to any of his offspring.

11

Figure 3-19

Mitochondria inherited maternally (almost always)

Chloroplasts Angiosperm generalization inherited maternally, but
there are lots of exceptions
(paternal, bi parental). Conifers -paternal

12

Figure 2-31 part 1

Inheritance of an autosomal dominant

disorder

Figure 2-31 part 8

12

What is the pattern of inheritance in the pedigree above ?

a) Autosomal dominant

b) Autosomal recessive

c) X linked dominant

d) X linked recessive

e) None of the above

13

14

15



16

17

Fig. 4.24

18

Genes assort independently, therefore you can calculate expected

probabilities for them independently.

AA x aa = 1 genotype possible Aa,

1 phenotype (A_)

AA x Aa = 2 genotypes : 0.5AA, 0.5 Aa 1 phenotype (A_)

Aa x aa = 2 genotypes : 0.5Aa, 0.5 aa 2 phenotypes (Aa, aa 0.5)
each)

Aa x Aa = 3 genotypes : 0.5Aa, 0.25 aa, 0.25AA










2 phenotypes: 0.75A_, 0.25aa

aa x aa = 1 genotype,





1 phenotype

AA x AA = 1 genotype,
1 phenotype



Use these expectations to calculate more complicated 2 and 3
locus, multiple allele expected phenotype and genotype ratios.



e.g. In the cross Aa Bb x Aa Bb what is the expected frequency
of the 2 gene dominant phenotype ? (A_ = 0.75) * (B_ = 0.75) =
0.5625= 9/16

19

Mendels second law-independent assortment

of different genes on different chromosomes
.Allele pairs of two (or more) different genes (on different

chromosomes) assort (into gametes) independently (of each other).

Mendels second law states that more than one gene pairs that are on different
chromosomes assort independently at meiosis.



Segregation of the members of any pair of alleles for one gene is independent of the
segregation of alleles for other genes in the formation of of reproductive cells.



20

Dihybrid breeding design

Nomenclature: R/R . y/y

separate different genes, using a space R y or a dot
R.y



Separate alleles using / which is shorthand for //



// is an abstraction of paired homologous chromosomes

21

Breeding Design - Dihybrid Cross

2 inbred strains R/R.yy
r/r.YY



Each strain shows 2 different characters (shape, color),
implying at least 2 genes.



Each character has 2 character states (dominant or
recessive), implying 2 alleles.



F1 expected ?

22

Dihybrid cross

Figure 3-3 step 3

Check ?

Inbreed F1

23

Breeding Design - Test Cross

(2)


(3)

Rr YY x rr yy?


RR YY x rr yy?

(1) Frequency of: R, Y alleles ?

24

 Mendels breeding design

that produced a 9 : 3 : 3 : 1
phenotype ratio

Inbreed

315/556 = 0.567, ~ 9/16 (0.562)

108/556=0.194, ~3/16 (0.188)

101/556=0.182, ~3/16 (0.188)

32/556=0.058, ~1/16 (0.0625)

25

Breeding Design - Dihybrid Cross

Punnett square illustrating the 9 : 3 : 3 : 1
phenotype ratio and underlying genotypes



(2 genes*2 alleles) gamete combinations
that heterozygotes produce.

26

The expected phenotype ratio in a classical dihybrid cross is

9:3:3:1.

e.g Parentals
AA bb x aa BB):



F2 (9A_ B_; 3A_ bb; 3aa B_; 1 aabb)

How many different genotypes are expected, and in what ratios?



3 methods : (other than memorizing)

Punnett square- reliable, visual but awkward and time-consuming.

Line Diagram reliable, direct, but time consuming.

Use the product rule- reliable and quick

27

Arrow, Line or Tree Diagrams of

a Classical 2 gene, 2 allele dihybrid cross

0.25RR*0.25YY

0.25RR*0.5Yy

0.5Rr*0.5Yy

phenotypes

28

Product Rule: if A and B are independent, the probability they cooccur is the product of their independent probabilities

or p(A) x p(B)

(key word and outcome A and B)

For example: A blue -eyed male and a brown-eyed female whose

father had blue eyes, plan to have children. What is the
probability of having a blue-eyed daughter as a first child ?

Probability of having a
daughter = 0.5 (column 1)

Probability of having blue eyes

0.5
XB

= 0.5 (row2)

Probability of a child that is
0.5
Xb

blue-eyed and a girl = 0.25

Probability of having two blueeyed daughters in sequence =

0.25 * 0.25

0.5

Xb

0.5

Y

XBXb
YXB

XbXb

YXb

29

Addition rule : the probability of occurrence of

any two mutually exclusive events is the sum of the
probabilities of the individual events. Key word or

In the cross AaBb X AaBb, what is the probability that the
progeny will show the recessive phenotype for at least one
gene ?



Possibilities: A_ bb
= 3/4 (A_) * 1/4 (bb) = 3/16, or

aa B_
= 1/4 (aa) * 3/4 (B_) = 3/16, or

aabb
= 1/4 (aa) * 1/4 (bb) = 1/16



Probability of any
3/16 +3/16 +1/16 = 7/16



What is the probability of a boy or a girl ?



30

In genetics you often use both multiplicative and additive rules in one
problem

Find the probability that each of 3 children in a family
will be of the same sex.



a) 1/2

b) 1/4

c) 1/8

d) 1/16

e) 3/8



What is the probability of having two girls and a
boy ?

(GGB or GBG or BGG)



a) 1/2

b) 1/4

c) 1/8

d) 1/16

e) 3/8

MEIOSIS

Prophase -Metaphase chromosome

Interphase chromosomes

To represent the cellular behavior of chromosomes at the cytological

scale in meiosis we use the following model of chromosome structure,
a double stranded DNA molecule with associated histone proteins.

The centromere is part of a DNA molecule, it is hundreds of kilobases
long, with no functional genes. Count chromosomes by counting
centromeres.

Key stages of meiosis and mitosis

Figure 2-15

Sister Chromatids

Homologous

chromosomes

Sister chromatids

Stages of Prophase I

(1) Chromosomes condense

and coil - Leptotene

Nuclear membrane begins to
breaks down

(2) Zygotene homologous
chromosomes pair:

Meiosis differs from mitosis in
early prophase 1, when
homologous chromosomes are
linked in a protein
(synaptonemal) complex

Fig. 2.13a

Prophase I

Synaptonemal complexes at meiosis

(3)Pachytene
(synaptonemal complex,
crossover, recombination).
Recombination occurs
where maternal &
paternal chromosomes
arms break, and
recombine with their
homologue.

There are genetic
repair mechanisms
associated with the
pairing of chromosomes
in Prophase 1.

 Crossover, recombination
and repair has finished

in (4)Diplotene, the
chromosomes are beginning
to repel and the chiasmata
(points of recombination)
are beginning to migrate to
the telomeres.

In (5) Diakinesis,
chiasmata have migrated to
the chromosome ends
(telomeres)

Metaphase 1: (a) recombined chromosomes

(b)random segregation of maternal and paternal
chromosomes and alleles

Stages of Meiosis

diakinesis (centromeres repel and

chromosomes separate).

Box 2-2

Sister chromatids
segregate

Meiosis 1, (first
reduction division)

Homologous chromosomes

segregate

Meiosis 2, (second reduction

division)

17

Metaphase and Anaphase 2