HUMAN GENETIC

DISORDERS
What are Genetic Disorders?
 Genetic disorder- an abnormal condition that a
person inherits through genes or chromosomes
 Genetic disorders are caused by mutations
 The mutation may occur when sex cells form or
may be passed down from parent to offspring
Cystic Fibrosis
 Body produces abnormally thick mucus in the lungs and
digestive system
 Symptoms:
 Difficulty breathing
 Bacteria in lungs can cause infections
 Digestive problems

 Mutation is caused by a recessive allele

 Most common in people of northern European descent
 Currently no cure
 Treatment:
 drugs to prevent infection
 physical therapy
 Sickle-Cell Disease

 Red blood cells are sickle shaped, resulting from

abnormal production of the protein hemoglobin
 Hemoglobin is responsible for carrying oxygen in the
blood
 Symptoms:
 Lack of oxygen in the blood
 Pain and weakness
 Most common in people of African descent
 Currently no cure
 Treatment:
 Drugs to relieve symptoms and to prevent blockages in
Hemophilia
 A genetic disorder in which a person’ s blood
clots very slowly or not at all due to a missing protein
 Potential to bleed to death from small cuts or
minor bumps and bruises
 Caused by a recessive allele on the X chromosome
 Occurs more frequently in males
 Treatment:
 Regular doses of missing protein
 Avoid contact sports
Huntington’ s Disease
 A genetic disease that causes the gradual
breakdown of cells in the brain
 Caused by a dominant allele
 Is a fatal disease with no cure
 Symptoms appear around age 30
Down Syndrome
 A genetic disorder caused by an extra
chromosome 21
 The extra chromosome is a result of an error
during meiosis
 Symptoms:
 Distinctive physical appearance
 Some degree of mental retardation
 Heart defects
Diagnosing Genetic Disorders
 Scientists use tools such as
 Amniocentesis
■ Doctor uses a long needle to remove fluid surrounding
the baby
■ Fluid contains cells that are analyzed in a karyotype
 Karyotypes
■ A picture of all the chromosomes in a cell
■ Doctors arrange chromosomes in pairs
■ Look for correct number and shape of
chromosomes
■ Can be used to determine sex of baby
Genetic Counseling
 People may have genetic counseling if they
have a history of genetic disorders in their
families
 Genetic counselors use karyotypes, pedigree
charts, and Punnett squares to determine a
couple’ s chances of having a child with
certain genetic disorders