LEARNING OBJECTIVES Insertion – A genetic matrial added from another Inversion – occurs when the direction of a part of a

chromosomes. chromosome is reversed.

Differentiate germinal and somatic mutation.
GENETIC DISORDERS
Explain chromosome mutations.
Identify the different genetic disorders in humans. 1. Recessive Disorder – A child receives two defective genes
from each parent.
MUTATIONS
2. Sex-linked Disorder – Most common in men since they
 Changes to a DNA sequence or in genetic material have only x chromosome
 Beneficial genetic variation or may have a Translocation – a part of chromosome breaks off and
dangerous effect. 3. Human Genetic Syndrome – May have few or too much
combined to another chromosome.
 Mutagens – agents that cause the alteration in the chromosomes.
DNA RECESSIVE DISORDERS
2 TYPES OF GENETIC MUTATIONS

GERMINAL MUTATION – can be passed from parents to

their children.

SOMATIC MUTATION – Mutation in somatic Cells

Deletion – there is a loss of part of a chromosome.

CHROMSOME MUTATION – changes in the number sets of
chromosome.
Sickle Cell Anemia

 A genetic blood disorder.

 Have abnormally shaped red blood cells and may
die at an early age.

Duplication – there are extra copies of a part of a

 CHROMESOME MUTATIONS chromosome.
 2. Hemophilia- An inherited bleeding disorder in which the
blood does not clot properly.
Tay-Sachs Disease Edward Syndrome
HUMAN GENETIC SYNDROME
• Lack of an important chemical in the brain. • Trisomy 18

• Infants usually die within their first five years. • Shows mental retardation and physical
abnormalities to the child and can live beyond one
• Caused by the absence of an enzyme that helps
year.
break down fatty substances.

Cri du chat

• A piece of chromosome is missing.

Patau’s Syndrome
• Characterized by wide-set eyes and small head and
jaw. • Trisomy 13

• About 90% of babies do not survive in infancy.

• Several mental retardation occurred to those

Phenylketonuria
survived.
• Cannot breakdown phenylalanine.

• Can cause serious mental retardation in infants.

William Syndrome
• Can be treated through a special diet.
• Loss of segment in C7.
Klinefelter’s Syndrome
• Large ears and facial features that make them look
like elves. • XXY

• Lack facial hair and their testes, including the

prostate gland, are underdeveloped.

Cystic Fibrosis
Turner’s Syndrome - Has 45
• Some glands produce too much mucus that clogs chromosomes.
Down Syndrome
and damages the lungs.
• Mongolism (Trisomy 21) • About 96-98% do not survive at
• Fatal in children. birth.
• Most common cause of mental retardation.
SEX-LINKED DISORDERS • Have no menstruation, has narrow
1. Color Blindness- see colors differently than most people lips, breast are not developed, and
with broad shoulders and neck.