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Transcript
1/7/15
Mr. Faia
6th Grade Science
HUMAN GENETIC DISORDERS
GENETIC DISORDERS

Genetic disorder is an abnormal condition that
a person inherits through the genes or
chromosomes
GENETIC DISORDERS

Genetic disorders are caused by a mutation in
a person’s DNA
CYSTIC FIBROSIS

Genetic disorder in which the body produces an
abnormally thick mucus

It is produced in the lung and intestines
CYSTIC FIBROSIS

How does the mucus affect the lungs?

How does the mucus affect the intestines?

What else can be caused by the mucus?
CYSTIC FIBROSIS

The mutation is carried on a recessive allele

Mostly in ancestors from Northern Europe

What are the medical treatments?
SICKLE-CELL DISEASE

Genetic disorder that affects the blood

Affects production of hemoglobin

What does hemoglobin do?
SICKLE-CELL DISEASE

What happens when oxygen levels in blood are
low?

What happens to the blood cells?
SICKLE-CELL DISEASE

Most common in people of African ancestry

What type of allele is the trait?

What are the medical treatments?
HEMOPHILIA

Genetic disorder that affects the blood

Person’s blood clots slowly or not at all.

What are the dangers of this?
HEMOPHILIA

Caused by a recessive allele on the X
chromosome

Who is more likely to be affected by
hemophilia?
HEMOPHILIA

What are the medical treatments for
hemophilia?

What do doctors advise patients to avoid?
DOWN SYNDROME

Caused when a person’s cells have an extra
copy of chromosome 21

Often occurs because chromosomes fail to
separate properly during meiosis
DIAGNOSING GENETIC DISORDER’S

What did doctors previously use to predict
genetic disorders?

What do doctors use today?
DIAGNOSING GENETIC DISORDERS

Amniocentesis is when doctors remove a small
amount of fluid from around a developing baby

Doctors then examines the chromosomes from
the cells
DIAGNOSING GENETIC DISORDERS

Doctors examine chromosomes using a
karyotype

Karyotype is a picture of all the chromosomes
in a cell
SECTION REVIEW

Explain how genetic disorders occur in humans. Give 2
examples.

Describe 2 tools that doctors use to detect genetic
disorders.

How do the cells of people with Down syndrome differ
from those of others? How might this difference
happen?

A couple with a family history of hemophilia is about to
have a baby girl. What information about the parents
would you want to know? How would this help determine
whether the baby will have hemophilia?