Chapter 14

Identify the types of human chromosomes in a karyotype.;

Describe the patterns of the inheritance of human traits.;
Explain how pedigrees are used to study human traits.;
Explain how small changes in DNA cause genetic
disorders.;
Summarize the problems caused by nondisjunction.;
Summarize the methods of DNA analysis.;
State the goals of the Human Genome Project
 Key
Male Affected Mating
male

Human Genetics Female Affected

female
Offspring, in
birth order
(first-born on left)

1st generation
(grandparents) Ww ww ww Ww

Pedigree Analysis 2nd generation

(parents, aunts,
and uncles) Ww ww ww Ww Ww ww

3rd generation
(two sisters)

A pedigree is a WW
or
Ww
ww

family tree that Widow’s peak No widow’s peak

shows how certain (a) Is a widow’s peak a dominant or recessive trait?

characteristics 1st generation

(grandparents) Ff Ff ff Ff

have been 2nd generation

(parents, aunts,

inherited over
and uncles) FF or Ff ff ff Ff Ff ff

3rd generation
(two sisters)
many generations. ff FF
or
Ff

Attached earlobe Free earlobe

(b) Is an attached earlobe a dominant or recessive trait?
Key
Male Affected Mating
male Offspring, in
Female Affected
female birth order
(first-born on left)
a. Widow’s peak:
1st generation
(grandparents)

2nd generation
(parents, aunts,
and uncles)

3rd generation
(two sisters)

Widow’s peak No widow’s peak

Key
Male Affected Mating
male Offspring, in
Female Affected
female birth order
(first-born on left)
a. Widow’s peak:
1st generation ww ww
(grandparents)

2nd generation
(parents, aunts,
and uncles) ww ww ww

3rd generation
(two sisters)
ww

Widow’s peak No widow’s peak

Key
Male Affected Mating
male Offspring, in
Female Affected
female birth order
(first-born on left)
a. Widow’s peak:
1st generation Ww ww ww Ww
(grandparents)

2nd generation
(parents, aunts,
and uncles) Ww ww ww Ww Ww ww

3rd generation
(two sisters)

WW ww
or
Ww

Widow’s peak No widow’s peak

(b) Is an attached earlobe a dominant or recessive trait?

1st generation
(grandparents)

2nd generation
(parents, aunts,
and uncles)

3rd generation
(two sisters)

Attached earlobe Free earlobe

(b) Is an attached earlobe a dominant or recessive trait?
1st generation
(grandparents) Ff Ff ff Ff

2nd generation
(parents, aunts,
and uncles) FF or Ff ff ff Ff Ff ff

3rd generation
(two sisters)

ff FF
or
Ff

Attached earlobe Free earlobe

 George Arlene

Sandra Tom Sam Wilma Ann Michael

Carla
Daniel Alan Tina

Christopher

Q3. The pedigree above shows which members of a family are affected
by the genetic disorder sickle cell disease:

N = Normal allele

n = allele for sickle cell disease

Write the possible genotypes of every family member on the diagram.

 Nn nn
George Arlene

NN or Nn nn Nn nn Nn Nn
Sandra Tom Sam Wilma Ann Michael
nn

Nn Nn NN or Nn Carla
Daniel Alan Tina
NN or Nn

Christopher
Karyotypes

• A genome is the full set of genetic information

that an organism carries in it’s DNA
• Each diploid cell in your body contains your
entire genome. The genes are spread across
the 46 chromosomes
• A karyotype is an ordered display of the pairs
of chromosomes from a cell
APPLICATION

TECHNIQUE
5 µm

Pair of homologous
replicated chromosomes

Centromere

Sister
chromatids
Metaphase
chromosome
 The Human Karyotype:

The 22 pairs of
chromosomes that do
not determine sex are
called autosomes
The sex chromosomes
are called X and Y
Females are XX, and
males are XY
Each ovum (egg)
contains an X
chromosome, while a
sperm may contain
either an X or a Y
chromosome
In humans and other mammals, the X chromosome
is much larger than the Y chromosome
Therefore the X chromosome carries many more
genes than the Y chromosome

Y
Q1. Look at the diagram of the karyotype.
a. What organism is the karyotype from? How can you
tell?
b. Is this organism male or female? How can you tell?
c. Is it from a haploid or a diploid cell? How can you
tell?
d. How many autosomes are there? How many sex
chromosomes?
Q1. Look at the diagram of the karyotype.
a. What organism is the karyotype from? How can you
tell? A human, it has 46 chromosomes
b. Is this organism male or female? How can you tell?
Male, it has X and Y sex chromosomes
c. Is it from a haploid or a diploid cell? How can you tell?
It is diploid, the chromosomes are in pairs
d. How many autosomes are there? How many sex
chromosomes?
44 chromosomes, 2 sex chromosomes
Inheritance of Sex-Linked Genes

• The sex chromosomes have genes for many

characters unrelated to sex
• A gene located on either sex chromosome is
called a sex-linked gene
• In humans, sex-linked usually refers to a gene
on the larger X chromosome

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

• Sex-linked genes follow specific patterns of
inheritance
• For a recessive sex-linked trait to be
expressed:
– A female needs two copies of the allele

– A male needs only one copy of the allele

• Sex-linked recessive disorders are much more

common in males than in females

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

 The transmission of sex-linked recessive traits:

XN XN  XnY XNXn  X NY XNXn  XnY

Sperm Xn Y Sperm XN Y Sperm Xn Y

Eggs XN XNXn X NY Eggs XN XNXN XNY Eggs XN X NXn XN Y

XN XNXn XNY Xn XnXN XnY Xn XnXn XnY

(a) (b) (c)

 The transmission of sex-linked recessive traits:

XN XN  XnY XNXn  X NY XNXn  XnY

Sperm Xn Y Sperm XN Y Sperm Xn Y

Eggs XN XNXn X NY Eggs XN XNXN XNY Eggs XN X NXn XN Y

XN XNXn XNY Xn XnXN XnY Xn XnXn XnY

(a) (b) (c)

• Some disorders caused by recessive alleles on
the X chromosome in humans include:
– Color blindness

– Duchenne muscular dystrophy

– Hemophilia

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Q2. Hemophilia is a recessive, sex-linked disorder.

If a man with hemophilia and a woman who is heterozygous

for the trait have a child, what is the probability that:

a. the child will have only one allele for hemophilia

b. the child will have the disease

c. the child will be a boy

d. If the child is a boy, what is the probability of

him having the disease?

e. If the child is a girl, what is the probability of

her having the disease?
Hemophilia is a recessive, sex-linked
disorder.
If a man with hemophilia and a woman
who is heterozygous for the trait have a
child, what is the probability that:

a. the child will have only one allele for hemophilia =1/2
b. the child will have the disease =1/2
c. the child will be a boy =1/2
d. If the child is a boy, what is the probability of him
having the disease? =1/2
e. If the child is a girl, what is the probability of her
having the disease? =1/2
 X Inactivation in Female Mammals

• In mammalian females, although females start

life with more genes than males, one of the two
X chromosomes in each cell is randomly
inactivated during embryonic development
• The inactive X condenses into a Barr body

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

The X chromosome that becomes a
Barr body is random and will be
X chromosomes
different in different cells. Allele for
orange fur
Therefore, if a female is
Allele for
heterozygous for a particular gene black fur
located on the X chromosome, she
will be a mosaic for that character,
Cell division and
meaning that she show patches of X chromosome
each trait inactivation

Active X
Barr bodies
Active X

Black fur Orange fur

X inactivation and
the
tortoiseshell
cat:
 Alterations of chromosome number or structure

• Large-scale chromosomal alterations often

lead to spontaneous abortions (miscarriages)
or cause a variety of disorders

• In nondisjunction, pairs of homologous

chromosomes do not separate normally during
meiosis
• As a result, one gamete receives two of the
same type of chromosome, and another
gamete receives no copy

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 15-13-1

Meiosis I

Nondisjunction

(a) Nondisjunction of homologous (b) Nondisjunction of sister

chromosomes in meiosis I chromatids in meiosis II
Fig. 15-13-2

Meiosis I

Nondisjunction

Meiosis II

Nondisjunction

(a) Nondisjunction of homologous (b) Nondisjunction of sister

chromosomes in meiosis I chromatids in meiosis II
Fig. 15-13-3

Meiosis I

Nondisjunction

Meiosis II

Nondisjunction

Gametes

n+1 n+1 n–1 n–1 n+1 n–1 n n

Number of chromosomes

(a) Nondisjunction of homologous (b) Nondisjunction of sister

chromosomes in meiosis I chromatids in meiosis II
• Sometimes a gamete in which nondisjunction
occurred will be fertilized
• Any offspring produced will have an abnormal
number of a particular chromosome
• In a monosomy, an organism has only one
copy of a particular chromosome
• In a trisomy, an organism has three copies of
a particular chromosome
What is wrong
with this
karyotype?
• Down syndrome (Trisomy 21) is a condition
that results from three copies of chromosome
21

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

 Review - Halloween Genetics
Being a werewolf is a recessive sex-linked trait.
A homozygous normal woman marries a werewolf.
a. What are their genotypes for the werewolf gene?
b. What is the probability of their first child being a werewolf?

A mutation causes the woman’s genotype to change to

heterozygous.
c. Now what is the probability of them having a werewolf
baby?
d. If they have a girl is it more or less likely to be a werewolf
than a boy?
 Studying Human DNA

The human genome project was a 13 year, international

effort with the main goals of sequencing all 3 billion base pairs
of human DNA and identifying all human genes

What techniques can be used to study human DNA?

In order to ‘read’ the base sequences in DNA, scientists use

techniques to cut, separate and then replicate base
sequences
1. Cutting the DNA

Special enzymes called restriction enzymes can cut

DNA into precise pieces of a few hundred base pairs in
length
Each restriction enzyme cuts DNA at different sequence
of nucleotides
Restriction enzymes recognize certain short sequences and
then cut the DNA at a point in that sequence:

AGGCTCCCGGGCT
TCCGAGGG CCCGA

This restriction enzyme recognizes the sequence

CCCGGG and cuts each strand between the C and G.
It produces fragments with strands that do not overlap
Some enzymes produce DNA fragments with sticky ends.
EcoRI is the name of an enzyme that recognizes the
sequence CTTAAG and cuts between the G and A

AGGCTCTTAAGCT
TCCGAGAATTCGA

EcoRI
The overlapping strands of the fragments are called sticky
ends because they can easily be made to join onto other
DNA strands that have the complementary base pairs
 TECHNIQUE

2. Separating the DNA Mixture of Power

DNA mol- source
ecules of – Cathode Anode +
different

•Once DNA has been cut, a

sizes

technique called gel 1

Gel

electrophoresis is to separate
Power
the fragments –
source
+
Longer

•This technique uses a gel to molecules

separate molecules by size 2 Shorter

molecules

•A current is applied that causes RESULTS

charged molecules to move

through the gel
•Molecules are sorted into “bands”
by their size
Gel electrophoresis:
TECHNIQUE

Mixture of Power
DNA mol- source
ecules of – Cathode Anode +
different
sizes

Gel
1

Power
source
– +
Longer
molecules

2 Shorter
molecules
RESULTS
3. Reading the DNA
Now you have a shorter strand of DNA that is ready to be
decoded
The DNA fragments are added to a test tube along with free
nucleotides and a DNA polymerase that makes a single
strand of DNA
Most of the nucleotides are the normal DNA nucleotides that
are found in the cells nucleus
However a few of the nucleotides have been altered so that:
1. Whenever this special nucleotide is added to a strand it
stops the synthesis of that strand
2. It has a chemical dye attached that can be detected by a
laser
 TECHNIQUE
These special
nucleotides are called DNA (template strand) Labeled strands

dd-nucleotides.

Because they could be

randomly added to
anywhere along the
new DNA strand, after Shortest Longest
many rounds of Direction
replication the test tube of movement Longest labeled strand
of strands
will contain chains of
DNA of different lengths Detector

These can be Laser

Shortest labeled strand
separated again by gel RESULTS Last base
electrolysis and the end of longest
nucleotide of each labeled
strand
detected
Last base
of shortest
labeled
strand
Chapter 13, 14 Quiz – Monday 8th November
Revise:
• Differences between RNA and DNA
• Transcription and translation
• Mutations
• Sex –linked genes
• Pedigrees

Bring your genetic dictionary handout