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Ch 12 notes
Ch. 12 Review

Chapter 12.1
Pedigrees

I. Making a Pedigree
A _____PEDIGREE_____ is a diagram that represents genetic
inheritance. (kind of like a family tree)
II. Symbols of a pedigree
female
=
male =

= female non carrier

= male non carrier

= female that shows the trait

= male that shows
the trait

= female carrier
=male carrier

**Carrier someone who has a recessive allele for a specific

trait. (heterozygous)

 A ______HORIZONTAL_____ line connecting

a circle and square indicates that the
individuals are parents
A _______VERTICAL_____ line connects
parents with their offspring
****Roman numerals represent each different
generation

III Why Study a

Most
Pedigree?
genetic disorders are caused by the
recessive allele.

By studying pedigrees, the individual will be

able to determine the likelihood that he/she
carries the allele.
Information on other members of the family
can also be studied by looking at a pedigree.

Male

Parents

Female

Siblings

Affected
male
Affected
female
Mating

Known
heterozygotes
forrecessive
allele

Death

Pedigrees
illustrate
inheritance

Female

Male
2

II
2

III
?

IV
1

In a pedigree,
a circle
represents a
female; a
square
represents a
male.
Female
Male

 Highlighted

circles and

II
3

III
?

squares
represent
individuals

showing the trait

being studied.

IV
1

Also, can be
shaded in.

II
2

III
?

IV
1

Circles and
squares that are
not highlighted
designate
individuals that
do not show the
trait. Also, can
be blank or not
shaded in.

 A half-shaded
circle or square
represents a
CARRIER, a
heterozygous
individual.

 A horizontal line

I
1

II
III
?
IV

2
3

connecting a circle
5

and a square
indicates that the

individuals are
parents, and a

vertical line
connects parents

 The generations

I
1
II

2
4

are identified in
5

sequence by
Roman numerals,

III
?
IV

and each
individual is given

an Arabic number.

Remember :

I
II
III
IV

1
1

Question
1What does this

2
2

3
1

pedigree tell you

about those who
show the
recessive
phenotype for
the disease?

I
II
III
IV

1
1

The pedigree
indicates that
showing the
recessive
phenotype for
the disease is
fatal.

2
2

3
1

Question 2
What must happen for a person to show a recessive
phenotype?

Answer
The person must inherit a recessive allele for
the trait from both parents.

I
II
III
IV

1
1

Question
3How many

2
2

females are in
this pedigree?

3
1

I
II
III
IV

1
1

Question
4How many males

2
2

are in this
pedigree?

3
1

I
II
III
IV

1
1

Question
5How many

2
2

affected females
are in this
pedigree?

3
1

I
II
III
IV

1
1

Question
6How many

2
2

affected males
are in this
pedigree?

3
1

I
II
III
IV

1
1

Question
7How many

2
2

carriers are in
this pedigree?

3
1

IV.
Simple
Recessive
Heredity

Most genetic disorders are caused

by recessive alleles. Some common
genetics disorders caused by
recessive alleles are:
Cystic Fibrosis
Tay-Sach
PKU

a. Cystic fibrosis (CF) A fairly common genetic disorder among

white Americans.
Approximately one in 28 white Americans
carries the recessive allele, and one in
2500 children born to white Americans
inherits the disorder.
Due to a defective protein in the plasma
membrane, cystic fibrosis results in the
formation and accumulation of thick
mucus in the lungs and digestive tract.

b. Tay-Sachs Disease
Disease is a recessive disorder of the
central nervous system.
Page 312 draw in pedigree and
label each persons genotype.
**What is the genotype of
individual II-3?

Pedigree
TaySachs
Disease

c. Phenylketonuria (PKU)
is a recessive disorder that results from
the absence of an enzyme that converts
one amino acid, phenylalanine, to a
different amino acid, tyrosine.
Because phenylalanine cannot be broken
down, it and its by-products accumulate in
the body and result in severe damage to
the central nervous system.

Phenylketonuria

Phenylketonurics:ContainsPhenylalanine

V. Simple Dominant
Heredity
traits may be inherited just as
the rule of dominance
predicts, a single dominant
allele inherited from one
parent is all that is needed for
a person to show the
dominant trait.

May include:

Hitchhickers Thumb
Widows Peak
Free hanging Earlobes

Huntingtons Disease
*Huntingtons Disease lethal genetic disorder
caused by a rare dominant
allele. It results in a
breakdown of certain areas
of the brain.

Pedigree
Huntington
Disease

a.Cystic Fibrosis

d. Huntingtons disease

b.Simple dominant traits e. PKU (phenylketonuria

c.Tay-Sachs disease
C
_____
recessive disorder that results form the
absence of an enzyme required to break down lipids
_____ lethal genetic disorder caused by a dominant
D
allele
_____most common genetic disorder among white
A
Americans
_____recessive disorder that results from the
E
absence
of an exzyme that converts one amino acid
into another one
____ widows peak and hitch hikers thumb
B

Page 314 : draw the pedigree and label

each individuals genotype

Predict :
(using a Punnett Square)
the probability of II 4 and 5
having children with
Huntingtons disease.

Chapter 12.2 & 12.3 notes

When Heredity Follows
Different Rules

I. Incomplete dominance:
Appearance

of a __INTERMEDIATE__

phenotype
Occurs when a heterozygous individual is
__________________________ between
those of two homozygotes.
Example: red flowers and white flowers =
pink flowers or animal coat color

II. Codominance:
Expression

of both alleles

when you have _2_ dominant alleles and

both are expressed.
Examples: Black hen (B) x white hen (W) = black
and white hen or human blood types (A, B, AB, O)
Disorder in humans: Sickle cell anemia
different size red blood cell can lead to slowing of
blood flow, tissue damage, blockage of blood
vessels. (p. 324)
Occurs

III. Multiple alleles

Occurs

when ___MORE__ than __ONE__

alleles control a trait. (Can be 3 to 100
alleles per trait)
Examples: Pigeon color (p.317)
Use in humans: Blood Typing (important for
blood transfusions)