ANNOUNCEMENTS

 No Q&A session this

week. Please come to
my office hours MWF
9-11 (or call/email for
an appt.).

 TA Office Hours:
Lindy & Jon: M 1-3
BRL 013
Ellen: W 9-11
FOR 311A
TODAY...

 Practice pedigree analysis

Goal: recognize and predict pedigrees for four
common patterns of trait inheritance

 Probability and hypothesis testing

Pedigree analysis

 Basic patterns of inheritance

• autosomal, recessive
• autosomal, dominant
• X-linked, recessive
• X-linked, dominant (very rare)

 Applying pedigree analysis - practice

X-linked dominant pedigrees

• Trait is common in pedigree

• Affected fathers pass to ALL of their daughters
• Males and females are equally likely to be affected
X-linked dominant diseases

• X-linked dominant diseases are extremely unusual

• Often, they are lethal (before birth) in males and
only seen in females
ex. incontinentia pigmenti (skin lesions)
ex. X-linked rickets (bone lesions)
 QuickTime™ and a
Coat color in a wolf pedigree QuickTime™ and
TIFF (LZW) decompressor TIFF
are (LZW)
needed decom
to see this
are needed to see this picture.

QuickTime™ and a
TIFF (LZW) decompressor
are needed to see this picture.

olor is: a) X-linked, dominant

b) X-linked, recessive
c) autosomal, dominant
d) autosomal, recessive
e) can’t tell with info provided
Strategy for
interpreting
pedigrees:

systematically
rule out each of
the options
Based on this pedigree, how is cystic fibrosis
inherited?
(a) Autosomal dominant
(b) Autosomal recessive
(c) X-linked dominant
(d) X-linked recessive
Based on this pedigree, how is cystic fibrosis
inherited?
(a) Autosomal dominant
(b) Autosomal recessive
(c) X-linked dominant
(d) X-linked recessive
Based on this pedigree, how is this trait inherited?
(a) Autosomal dominant
(b) Autosomal recessive
(c) X-linked dominant
(d) X-linked recessive
(e) Can’t tell with info provided.
Based on this pedigree, how is this trait inherited?
(a) Autosomal dominant
(b) Autosomal recessive
(c) X-linked dominant
(d) X-linked recessive
(e) Can’t tell with info provided.
Based on this pedigree, how is this trait inherited?
(a) Autosomal dominant
(b) Autosomal recessive
(c) X-linked dominant
(d) X-linked recessive
(e) Can’t tell with information provided.
Based on this pedigree, how is this trait inherited?
(a) Autosomal dominant
(b) Autosomal recessive
(c) X-linked dominant
(d) X-linked recessive
(e) Can’t tell with information provided.
Based on this pedigree, how is this trait inherited?
(a) Autosomal dominant
(b) Autosomal recessive
(c) X-linked dominant
(d) X-linked recessive
(e) Can’t tell with information provided.
Based on this pedigree, how is this trait inherited?
(a) Autosomal dominant
(b) Autosomal recessive
(c) X-linked dominant
(d) X-linked recessive
(e) Can’t tell with information provided.
Pedigree Analysis in real life
Remember:
• dominant traits may be rare in population
• recessive traits may be common in population
• alleles may come into the pedigree from 2 sources
• often traits are more complex
• affected by environment & other genes
Probability & Hypothesis Testing
 Goals
• Understanding combining probabilities
(product and sum rules)
•Understand conditional probabilities
•Understand hypothesis testing
(chi-square test)
How many unique gametes can an individual of
genotype AABbCcDdee make?

a. 4
b. 8
c. 16
d. 32
e. 64
A general rule for calculating the number of
possible gametes a given genotype can produce

# possible gametes = 2n

where n is the number of heterozygous loci*

*this could be chromosomes or genes

The PROBABILITY (P) of an event is the
number of times the event will occur (a) divided
by the total number of possible events (n).

P = a/n

What is the probability of flipping a heads?

1 heads
Pheads = ------------------------- = ½ = 50%
(1 heads + 1 tails)
Product Rule: If events A and B are independent,
then the probability that they both occur is:
P(A and B) = P(A) x P(B)

That is, the probability of 2 or more independent

events occurring simultaneously is equal to the
product of their individual probabilities.
Product Rule : P(A and B) = P(A) x P(B)

What is the probability of flipping two heads in a

row?

P(A) = 0.5
P(B) = 0.5

P(A and B) = P(A) x P(B) = 0.5 x 0.5 = 0.25 =

25%
Sum Rule: The probability of one of two or more
mutually exclusive events occurring is equal to the
sum of their individual probabilities:
P(A or B) = P(A) + P(B)
 What is the probability of a tall plant from
a Tt x Tt cross?

The probability of a tall plant is ¼ + ¼ + ¼ = ¾.

Progressive Retinal Atrophy (PRA) - a common
recessive disease causing blindness in dogs

PP = healthy/noncarrier
Pp = healthy/carrier
pp = affected

Is a healthy dog a carrier??

Is a healthy dog a carrier (Pp)??

If PP... PP x pp

all progeny Pp
and healthy

We do the cross. We get 5 healthy puppies in a row.

What’s the probability of that outcome if the test dog is
really just a lucky carrier?
What is the probability of all 5 puppies being
healthy in a Pp x pp cross?

(a) 1/4
(b) 1/8
(c) 1/16
(d) 1/32 = ½ x ½ x ½ x ½ x ½ = 3%
(e) 1/64