Lesson 4 : Basic

Patterns of
Human
Inheritance
chromosomes
Unit 3 : Module 10
Grade 10 Biology
Objectives :
Analyze Analyze pedigree and its parts.

Construct Construct a pedigree for a particular trait and analyze the probability among next generation.

Describe Describe the dominant and recessive genetic disorders and compare them

Evaluate Evaluate the effect of dominant and recessive disorders in upcoming generation.
Pedigree of the UAE Royal Family
Real Life connection
 Focus Question

Why is a pedigree helpful in analyzing the

inheritance of traits through several
generations?
Important video links for the topics
• Pedigree analysis
• https://www.youtube.com/watch?v=MK3Fk24se7E
• https://www.youtube.com/watch?v=Gd09V2AkZv4
• Solving pedigree problems
• https://www.youtube.com/watch?v=-Ztzi6pAh5M
 Human
Genetics:
Karyotypes

46 TOTAL
Chromosomes

23 homologous 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.
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
Pedigree :
• Recessive traits are expressed only when the
individual is homozygous recessive for a trait.

• An individual who is heterozygous for a

recessive disorder is called a carrier.

• Inheritance of disorders in humans can be

achieved by the use of a pedigree, a diagram
that traces the inheritance of a particular trait
through several generations.
 Pedigrees
• A pedigree uses symbols to illustrate inheritance
of a trait.
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 =
• Dead person =
• Link parents together with a line and then make a
vertical line to connect to offspring.
 Pedigrees

Inferring Genotypes
• Pedigrees can be used to infer genotypes from the
observations of phenotypes.
• Knowing physical traits can determine what genes
an individual is most likely to have.
 Pedigrees

Predicting Disorders
• Using pedigrees can help predict the possibility of
disorders occurring in future offspring.
• This is more accurate if several individuals within
the family are evaluated.
• Record keeping helps scientists use pedigree
analysis to study inheritance patterns, determine
phenotypes, and ascertain genotypes.
Genetic disorder
• A genetic disorder is a genetic
problem caused by one or more
abnormalities in the genome.

Most genetic disorders are quite rare

and affect one person in every several
thousands or millions.
 Pedigrees
Recessive Genetic Disorders
• This pedigree shows an example of a recessive
genetic disorder, Tay-Sachs.
• Two unaffected parents have an affected child.
• This indicates that both parents are
heterozygous and carriers for the trait. The
half-filled square and circle show that both
parents are carriers.
 Pedigrees
Dominant Genetic Disorders
• This pedigree shows an example of a dominant
genetic disorder, polydactyly.
• Affected parents can pass the gene to their
children.
• Unaffected parents cannot have an affected child.
 Types of Dominant Genetic Disorders

Achondroplasia
Cause: A gene that affects bone growth is abnormal.
• Effects:  
• Short arms and legs
• Large head
• Cure/Treatment:
• No cure or treatment
 Types of Dominant Genetic Disorders

Huntingdon’s Disease

Cause:   A gene affecting neurological function is defective.

Effects:  
• Decline of mental and neurological functions
• Ability to move deteriorates
Cure/Treatment:
• No cure or treatment
• Symptoms normally appear by age 40

Huntington’s disease is always fatal

• Death normally occurs within 20 years of the onset of symptoms

 Types of Recessive Genetic Disorders

Cystic Fibrosis
 Cause: The gene that codes for a membrane protein is
defective.
Effects:  
• Excessive mucus production
• Digestive and respiratory failure
Cure/Treatment:
• No cure
• Daily cleaning of mucus from the lungs
• Mucus-thinning drugs
• Pancreatic enzyme supplements
 • Caused by an abnormal gene on chromosome 7
Causes of Cystic • The gene is for a protein pump that uses active transport to
regulate the movement of sodium (Na+) and chloride ions
Fibrosis (CF) (Cl-) into and out of cells
 Types of Recessive Genetic Disorders

Albinism
 Cause: The body does not produce normal amounts
of the pigment melanin.
Effects:  
• No color in the skin, eyes, and hair
• Skin susceptible to UV damage
• Vision problems
Cure/Treatment:
• No cure
• Protect skin from the Sun and other
environmental factors.
• Visual rehabilitation
 Types of Recessive Genetic Disorders

Tay-Sachs Disease
Cause:  Absence of a necessary enzyme that breaks down fatty
substances
Effects:  
• Buildup of fatty deposits in the brain
• Mental disabilities
Cure/Treatment:
• No cure or treatment
• Death by age 5
 Types of Recessive Genetic Disorders
Galactosemia
Cause:  Absence of the gene that codes for the
enzyme that breaks down galactose
Effects:  
• Mental disabilities
• Enlarged liver
• Kidney failure
Cure/Treatment:
• No cure
• Restriction of lactose/galactose in the diet
 Quiz

1. Which is NOT true about pedigrees?

A They show only C They can be used to

recessive disorders. predict disorders in a
family.

B They indicate the sex of D They are useful in

an individual. inferring genotypes of
individuals.
2. What does the top horizontal line between
numbers 1 and 2 in the figure indicates?

A. 1 and 2 are siblings

B. 1 and 2 are parents
C. 1 and 2 are offspring
D. 1 and 2 are carriers
3. If a genetic disorder is caused by a dominant
allele, what is the genotype of those who do
not have the disorder?

A. heterozygous
B. homozygous dominant
C. homozygous recessive