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Human Genetic Disorders
Station One
Read pages 117-118. Fill in the graphic organizer below.
I. Causes of Genetic Disorders
1. Genetic Disorder (Define)- ___________________________________
________________________________________________________
2. Some genetic disorders are caused by ________________ in the genes;
others are caused by changes in the overall __________________ or
__________________ of _________________.
A. Cystic Fibrosis
1. Cystic Fibrosis (Define)- _____________________________________
________________________________________________________
2. It is caused by a ___________________ ____________________ on one
chromosome.
3. The recessive allele is the result of a ____________________ in which
three __________________ are removed from DNA.
Color, cut and paste the picture of the normal lung and the lung that
has been affected by cystic fibrosis here.
B. Sickle-cell Disease
1. Sickle-cell Disease (Define)- __________________________________
________________________________________________________
2. When ________________ __________________ are low, the blood cells
have an unusual sickle-shape.
3. Sickle-shaped blood cells ______________ blood vessels and cannot carry
as much __________________.
4. The allele for the sickle-cell trait is ____________________ with the
normal allele. Only a person with two ______________ _____________ alleles
will have symptoms.
Color, cut and paste the picture of the normal blood cell and the sickleshaped cell here.
C.Hemophelia
1. Hemophelia (Define)- _______________________________________
________________________________________________________
2. It is caused by a ______________________ __________________ on the
______ chromosome.
3. It is a ___________
_________________ disorder, and occurs ore
commonly in ________________.
Human Genetic Disorders
Station Two
Read pages 118-119. Fill in the graphic organizer below.
D. Down Syndrome
1. Down Syndrome (Define)- ____________________________________
________________________________________________________
2. Down syndrome most often occurs when _____________________ fail to
separate properly during ________________.
II. Pedigrees
1. Pedigree (Define)- _________________________________________
________________________________________________________
2. Geneticists use pedigrees to trace the _____________________ ___
____________ in humans.
Copy the information from figure 10 on page 119 for the father with albinism into the
Pedigree below (shade the circles/squares). Glue the labels in the correct places.
3.
Pedigree Chart
Use the information below to help you complete the pedigree chart.
A grandfather has Cystic Fibrosis. He is married to a woman who does
not have Cystic Fibrosis (however, she carries one recessive allele). They
have three children: a son and two daughters. The son has Cystic
Fibrosis. Neither of the daughters have Cystic Fibrosis; however, they are
both carriers of one recessive allele. Neither of the daughters is married
or have children. The son marries a woman who does not have Cystic
Fibrosis, and she doesn’t carry any alleles for the disorder. They have two
daughters. Neither has Cystic Fibrosis.
KEY:
Male with CF
Male without CF
Male with one recessive CF allele
III. Managing Genetic Disorders
1. Doctors use tools such as ___________________ to help diagnose
__________________ ___________________.
2. People with genetic disorders are helped through ________________
_______________, ____________________, ______________ _________________,
and other methods.
A. Karyotypes
1. Karyotype (Define)- ________________________________________
________________________________________________________
2. A Karyotype can reveal whether a person has the correct number of
_____________________ in his or her cells.
Color, cut and paste the picture of the karyotype cell here.
B. Genetic Counseling
1. Genetic counselor (define)- ___________________________________
________________________________________________________
2. Genetic counselors use tools such as ___________________,
___________________ ________________, and ____________________
________________ to help them in their work.
C. Dealing with Genetic Disorders
1. People with genetic disorders face serious challenges, but help is
available. List two or more types of help available to those with genetic
disorders:
a.
b.
c.