Incomplete Vs.

Co-dominance
• Codominance - A form of inheritance in which
both alleles are equally shown.
• Incomplete dominance - A form of
inheritance in which the heterozygous alleles
are both expressed, resulting in a combined
phenotype.
– Most commonly found in plants.
• A red and a white allele gives pink. If it were
codominance, you would see the red and
white colors.
 Test Cross
• Used to determine an organisms genotype.
– Either Bb or BB

• Always a dominant unknown mated with pure

recessive
– B? X bb
Human Genetics: Karyotypes

46 TOTAL 46 TOTAL
Chromosomes

23 23
homologous homologous
pairs pairs
 What is the difference between an Autosome
and a Sex-chromosome?

• Autosomes are the first 22

homologous pairs of human
chromosomes that do not
influence the sex of an
individual.

• Sex Chromosomes are the 23rd

pair of chromosomes that
determine the sex of an
individual.
 Autosomal Traits
• Genes located on Autosomes control
Autosomal traits and disorders.

2 Types of Traits:
• Autosomal Dominant
• Autosomal Recessive
 Autosomal Recessive Traits
• In order to express the trait, two recessive alleles
must be present.

• What would be the genotype of an individual with an

autosomal recessive trait? (A = dominant)
– aa

• What would be the genotype of an individual

without the autosomal recessive trait?
– AA or Aa
– Aa – called a Carrier because they carry the
recessive allele and can pass it on to offspring, but
they do not express the trait.
 Albinism
Defect of melanin production that results in little or
no color in the skin, hair, and eyes
Albinism
Albinism
How does
it
happen?

Affected
Genotype:
aa
 Cystic Fibrosis
Disease that causes the
body to produce unusually
thick, sticky mucus that:

•Clogs the lungs and leads to

lung infections

• Obstructs the pancreas

• Stops natural enzymes

from helping the body
break down and absorb
food
How does
it
happen?

Affected
Genotype:
cc
 Sickle Cell Anemia

Caused by an abnormal
hemoglobin shape which
causes the red blood
cells to have a crescent
shape.

Red blood cells carry oxygen.

How does
it
happen?

Affected
Genotype:
ss
 Tay–Sachs disease
• Symptoms:
– a build up of lipids in the brain
– Seizures
– blindness
• Mainly occurs in Jewish people
Tay-Sachs Disease
 PKU (phenylketournia)
• symptoms;
– cannot break down the specific amino acid
(phenylalanine found in foods like milk)
– results in brain damage
• Mainly occurs in people of European descent
 Autosomal Dominant Traits
• If dominant allele is present on the autosome, then
the individual will express the trait.

• What would be the genotype of an individual with an

autosomal dominant trait?
– AA and Aa (Heterozygotes are affected)

• What would be the genotype of an individual

without the autosomal dominant trait?
– aa
 Huntington’s Disease
Causes the break down of
brain cells, (neurons) in
certain areas of the brain.

Causes uncontrolled
movements, loss of
intellectual faculties, and
emotional disturbance.
How does
it
happen?

Affected
Genotype:
HH or Hh
 Progeria
• Drastic premature aging, rare, die by age 13.
Symptoms include limited growth, alopecia,
small face and jaw, wrinkled skin,
atherosclerosis, and cardiovascular problems
but mental development not affected.
 Sex-Linked Traits
• Sex-linked traits are produced by genes only on the X
chromosome.
– They can be Dominant or Recessive.

• What would be the genotypes of a male and female that have a Sex-
linked Dominant trait and do not express the trait?
• Expresses Trait: Male - XA Y Female - XA XA or XA Xa
• No Expression: Male - Xa Y Female - Xa Xa

• What would be the genotypes of a male and female that have a Sex-
linked Recessive trait and do not express the trait?
• Expresses Trait: Male - Xa Y Female - Xa Xa
• No Expression: Male - XA Y Female - XA XA or XA Xa
(Carrier)

• Most Sex-linked traits are Recessive!

 Color Blindness
Inability to see colors in the normal way
How does it
happen?

Affected
Genotypes:
XbXb
XbY
 Hemophilia
Inability of the blood to clot properly
How does it
happen?

Affected
Genotypes:
XhXh
XhY
 Pedigree Analysis
• A pedigree shows the relationship between parents
and children over the generations and how a trait is
passed down from one generation to the next.
 How to Construct a Pedigree?
• A Pedigree is a visual showing the pattern of
inheritance for a trait. (Family tree)

• Symbols and Rules:

• Male = Female =
• Affected = Unaffected = Carrier =
• Link parents together with a line and then
make a vertical line to connect to offspring.
 Autosomal Dominant Pedigree
• Draw a Pedigree showing a cross between
Heterozygous parents that have 2 boys and 2
girls. (Show all possibilities)
Genotypes of Affected and Unaffected:
• AA and Aa = Affected aa = Unaffected
Aa Aa

aa Aa Aa AA
 Autosomal Recessive Pedigree
• Draw a Pedigree showing a cross between
Heterozygous parents that have 2 boys and 2
girls. (Show all possibilities)
Genotypes of Affected and Unaffected:
• AA=Unaffected Aa=Carrier, Unaffected
aa=Affected
Aa Aa

aa Aa Aa AA
 Sex-Linked Recessive Pedigree
• Draw a Pedigree showing a cross between a normal
male and a Carrier Female.
• Genotypes of Parents:
• Male = Xh Y Female = XH Xh

XRY XR
Xr

XRY XrY XRXR XRXr

Characteristics of Autosomal Dominant, Autosomal
Recessive, and Sex-linked Recessive Traits

• In groups, analyze your notes on each type of

disorder and examine the pedigrees.

• Come up with rules/characteristics for each

type of Trait.
 Types of Pedigrees: Recessive

Affected Genotypes: bb

Unaffected Genotypes: BB or Bb

HINT: Recessive Disorders skip

generations
Is the Pedigree below showing
Recessive Inheritance?
Recessive Inheritance?
Recessive Inheritance?
 Types of Pedigrees: Sex-linked
Affected Genotypes:
XbXb or XbY

Unaffected Genotypes:
XBXB or XBXb and XBY

HINT: Mainly males are affected

Is the Pedigree below showing Sex-
Linked Inheritance?
Sex-linked Inheritance?
Sex-linked Inheritance?
 Types of Pedigrees: Dominant

Affected Genotypes: BB or Bb

Unaffected Genotypes: bb
Is the Pedigree below showing
Dominant Inheritance?
Dominant Inheritance?
Dominant Inheritance?
What is genotype
How many of Individual I-
generations?
What type of Inheritance?
1?
What is genotype
How many of Individual I-
generations?
What type of Inheritance?
1?
Pedigrees and Genetic Disorders
 Mutations
Gene Mutations
1. Caused by a change in the amino acid sequence of a
protein
2. Impacts of mutations: lethal, neutral, or beneficial
3. Gene mutation are caused by a change to one or more
bases in nucleotide sequence of DNA
A. mutations are rare because cells have proofreading and
correction enzymes
B. these chance events (mutations) are caused by mutagens
Ex. viruses, UV light, chemicals like mustard gas
 Mutations
Chromosomal Mutations
1. Caused by a change in structure or number of
chromosomes
2. Detected by KARYOTYPING which matches
homologous chromosomes in a diploid (2N) cell
by:
1. Size of chromosome
2. Length of chromatid arms
3. Centromere location
 Karyotype
Karyotype of a normal female Karyotype of a normal male

1 2 3 4 5 1 2 3 4 5

6 7 8 9 10 6 7 8 9 10

11 12 13 14 15 11 12 13 14 15

16 17 18 19 20 16 17 18 19 20

21 22 23 21 22 23
 Chromosomal Mutations
Theoretically Normal Chromosome Structure
note : each letter or segment on a chromosome represents a gene in proper locus

A B C D E F and G H I J K

Structure
a. Deletion - loss of part of a chromosome AC  DEF
b. Duplication - segment is repeated ABBC  DEF
c. Inversion - orientation is reverse of normal AED  CBF
(twisting)
d. Translocation - parts are broken off and added to another
chromosome
Ex. ABC  DEF and GH  IJK is changed to ABC  JK and GH  IDEF
 Chromosomal Mutations
Nondisjunction deals with whole chromosomes or sets
of chromosomes "not coming apart.”
During meiosis a cell gets both copies of a chromosome
and the other cell is missing one chromosome
because sister chromatids didn’t separate
I. Monosomy is the condition of having only 1 chromosome of a
homologous pair
Turner Syndrome= monosomy of 23rd pair
II. Trisomy is the condition of having 3 chromosomes of a
homologous pair
Down syndrome (21st pair), Klinefelter Syndrome (23rd pair), XYY
syndrome (23rd pair)
Down Syndrome
 Cystic fibrosis
• Caused by a recessive allele; ff
• Symptoms:
– organs produce a thick mucus causing congestion
in the lungs
– digestive tract problems
– pneumonia like symptoms
• Mainly occurs in Caucasians
 Albinism
• Caused by a recessive allele; aa
• Symptoms:
– no melanin in the skin
• resulting in an albino:
– white skin
– pink to red eyes
 Huntington disease
• Caused by a dominant allele; HH or Hh

• Symptoms:
– breaks down the nervous system, fatal
 Sickle Cell Anemia
• Caused by a co-dominant allele (A’) which codes for
abnormal hemoglobin
– hemoglobin is found on the red blood cells and carries
oxygen
• Symptoms:
– sickle shape red blood cells, clotting, extensive pain, can
be fatal
• Genotypes:
– AA = normal
– AA’ = normal but a carrier
– A’A’ = diseased
• Mainly African people
 Color blindness
• Sex-linked disorder caused by a recessive
allele only found on the X sex chromosome:
– XC XC = normal female; XC Xc= normal, but a carrier
– Xc Xc= color blind female
– XC Y = normal male; XcY = color blind male
• Symptoms:
– cannot distinguish red from green
Color Blindness
 Hemophilia
• Sex-linked disorder caused a recessive allele
only found on the X sex chromosome
– normal female = XH XH= normal, but a carrier XH Xh
– hemophiliac female = XhXh
– normal male = XHY; XhY = hemophiliac male
• Symptoms:
– excessive bleeding from a minor injury, fatal
 Down syndrome (trisomy)
• Cause by nondisjunction
– too many chromosomes: 3 chromosomes for the
21st pair of homologous chromosomes; resulting
in 47 total chromosomes
• Symptoms:
– Almond shape eyes
– Enlarged tongues
– Some can be mentally and physically challenged
Down syndrome (trisomy)
 Klinefelter syndrome
• Cause by nondisjunction
– too many chromosomes: 3 sex chromosomes =
XXY; the sex is male; resulting in 47 total
chromosomes
• Symptoms:
– Underdeveloped male sex organs
– Sterility
– May have feminine body parts
 Turner Syndrome
• Cause by nondisjunction
– not enough chromosomes; 1 sex chromosome =
XO the sex is female; resulting in 45 total
chromosomes
• Symptoms:
– Females are usually short
– Sex organs may not develop
– Sterility
Turner Syndrome
 Pedigree Analysis
• In a pedigree chart, certain shapes indicate gender and colors signify
whether or not they carry the trait or show the trait
• A circle represents a female.

• A square represents a male.

• A horizontal line between 2 people indicates marriage.

• A vertical line extending from a marriage line indicates the offspring from
the couple.

• A solid shaded shape represents a person who shows the trait in their
phenotype.

• A half shaded shape represents a person who is a carrier of the trait but
does not show the trait. NOTE: some pedigrees don’t indicate carriers
Pedigree Analysis
 Pedigree Analysis
Generations are indicated with Roman numerals (I, II, III) and
individuals within generations are marked with arabic
numbers (1, 2, 3, 4).
Pedigree Questions: this pedigree doesn’t indicate carriers
1. What sex is individual I-2?
2. How many children are in the 2nd generation = sickle cell
from the union of I-1 and I-2? anemia
3. What are their sexes?
4. Which individual was married in generation 2?
5. How many daughters are in generation 3?
6. How many sons are in generation 4?
7. List the 3 individuals who were afflicted with
sickle cell anemia?
8. Were individuals I-1 and I-2 carriers of sickle cell?
9. How do you know? (Explain your answer to #8)
10. List another carrier of sickle cell anemia.
Karyotype Practice
1 2 3 4 5

6 7 8 9 10

11 12 13 14 15

16 17 18 19 20

21 22 23

Down Syndrome Male

Karyotype Practice
1 2 3 4 5

6 7 8 9 10

11 12 13 14 15

16 17 18 19 20

21 22 23

Klinefelter Male
Karyotype Practice
1 2 3 4 5

6 7 8 9 10

11 12 13 14 15

16 17 18 19 20

21 22 23

Turner Syndrome Female

Karyotype Practice
1 2 3 4 5

6 7 8 9 10

11 12 13 14 15

16 17 18 19 20

21 22 23

XYY Syndrome Male

 Unit 9, Part 4 Notes
Pedigrees and Genetic Disorders
• Definition: a graphic
representation of genetic
inheritance used by geneticists
to map genetic traits
Affected
Dead
What is a pedigree?
What does a pedigree
look like?
• Generations in separate
rows indicated by Roman
numerals (I, II, III…)
• Individuals within one
generation indicated by
Arabic numerals (1, 2, 3…)
• Parents connected by
horizontal lines
• Offspring connected by
vertical lines
• Occurs in people of Jewish
descent
• Enzyme that breaks down
lipids in the brain is Let’s look at
defective. Lipid buildup
kills brain cells.
an example…
• Always results in death,
usually by age 5
Tay Sachs
• Caused by a recessive
allele disease
 Pedigree for Tay Sachs disease

Carrier Carrier
• Caused by a rare dominant
allele
• Doesn’t show up till age 30-
50
• Breaks down areas of the
brain, loss of control of all Huntington’s
body functions
• No treatment
Disease
Pedigree for Huntington’s
Disease
normal
carrier
What if the trait is sex-linked?
How can you tell?

Answer: Most affected

individuals are males
Let’s try one…Is this sex-linked or
not?

Answer: Yes
 • Interactive pedigree activit
y
• Pedigree quiz
More practice • Punnett Square and Pedigr
with pedigrees… ee problems
Sex Chromosomes
• 2 sex chromosomes
• Typical Female = XX
• Typical Male = XY
 Autosomes

Autosomes:
Any
chromosome
that’s not a sex
chromosome

•44 Autosomes
•22 pairs of
Autosomes
 Autosomal Recessive Traits
• Heterozygotes are Carriers with a normal phenotype.
• Most affected children have normal parents. (Aa x Aa)
• Two affected parents will always produce an affected child.
(aa x aa)
• Two unaffected parents will not produce affected children
unless both are Carriers. (AA x AA, AA x Aa)
• Affected individuals with homozygous unaffected mates will
have unaffected children. (aa x AA)
• Close relatives who reproduce are more likely to have
affected children.
• Both males and females are affected with equal frequency.
• Pedigrees show both male and female carriers.
 Examples of Autosomal Recessive Disorders
• Congenital Deafness
• Diabetes Mellitus
• Sickle Cell anemia
• Albinism
• Phenylketoneuria (PKU) – Inability to break down
the amino acid phenylalanine. Requires
elimination of this amino acid from the diet or
results in serious mental retardation.

• Galactosemia – enlarged liver, kidney failure,

brain and eye damage because can’t digest milk
sugar
• Cystic Fibrosis – affects mucus and sweat glands,
thick mucus in lungs and digestive tract that
interferes with gas exchange, lethal.
• Tay Sachs Disease – Nervous system destruction
due to lack of enzyme needed to break down
lipids necessary for normal brain function. Early
onset and common in Ashkenazi Jews; results in
blindness, seizures, paralysis, and early death.
 Autosomal Dominant Traits
• Heterozygotes are affected
• Affected children usually have affected parents.
• Two affected parents can produce an unaffected
child. (Aa x Aa)
• Two unaffected parents will not produce affected
children. (aa x aa)
• Both males and females are affected with equal
frequency.
• Pedigrees show no Carriers.
 Examples of Autosomal Dominant Disorders
• Dwarfism
• Polydactyly and Syndactyly
• Hypertension
• Hereditary Edema

• Chronic Simple Glaucoma – Drainage system for fluid in the eye does not work and pressure
builds up, leading to damage of the optic nerve which can result in blindness.
• Huntington’s Disease – Nervous system degeneration resulting in certain and early death.
Onset in middle age.
• Neurofibromatosis – Benign tumors in skin or deeper
• Familial Hypercholesterolemia – High blood cholesterol and propensity for heart disease
• Progeria – Drastic premature aging, rare, die by age 13. Symptoms include limited growth,
alopecia, small face and jaw, wrinkled skin, atherosclerosis, and cardiovascular problems but
mental development not affected.
 Examples of Sex-Linked Recessive Disorders

• Red/Green Colorblindness – Difficulty perceiving differences between

colors (red or green, blue or yellow).
• Hemophilia – Absence of one or more proteins necessary for normal
blood clotting.
• Deafness
• Cataracts – opacity in the lens that can lead to blindness
• Night blindness – (Nyctalopia) rods do not work so that can not see in the
dark
• Glaucoma – pressure in the eye that can lead to optic nerve damage and
blindness
• Duchenne Muscular Dystrophy – progressive weakness and degeneration
of skeletal muscles that control movement due to absence of dystrophin
(protein that maintains muscle integrity). Mainly in boys, onset 3-5 yrs, by
12 years can’t walk, and later needs respirator.
 Sex-Linked Disorder
Linked to sex chromosomes

Recessive Disorders – caused

by recessive alleles
 Sex-Linked Recessive Traits
• More males than females are affected.
• An affected son can have parents who have the
normal phenotype. (XAY x XAXa)
• For a daughter to have the trait, her father must also
have it. Her mother must have it or be a carrier.
(XaY, XaXa, XAXa)
• The trait often skips a generation from the
grandfather to the grandson.
• If a woman has the trait (XaXa), all of her sons will be
affected.
• Pedigrees show only female carriers but no male
carriers.
 Genetic Counselor Activity
• Imagine that you are a Genetic
Counselor assigned to family to
discuss with them the possibility
of their child inheriting a genetic
disorder.

• You are given the family history and

whether or not the disorder is
Autosomal Dominant or Autosomal
Recessive.

• Draw Punnett Squares to determine

odds of children inheriting the disease
and answer the questions on the
worksheet.
 What is a Pedigree???
Diagram showing a family tree and patterns of
inheritance.