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Learning From
Karyotypes
Be a genetic councilor!
 People- like all living things- have DNA in their cells which
helps to determine how they look and how they function.
 DNA molecules are coiled up around proteins (like thread on
a spool) to make chromosomes.
 Chromosomes can be used by genetic councilors to learn
things about people.
 Click  Genetic Councilors to learn about genetic councilors.
 If chromosomes are damaged (chromosomal mutations)
health problems can result.
1. Karyotype
Definition: Picture of chromosomes, can be used to find out the
gender of a person and also to diagnose some genetic
disorders
How is a karyotype made? ( process):
• make chromosomes coil up in cell
• stain chromosomes
• find chromosomes using a microscope
• take a picture of chromosomes
• cut apart chromosomes, pair them up and line them up
according to their number.
This picture shows
how the
condensed and
stained
chromosomes
would look
under a
microscope 
The NEXT slide shows a finished karyotype. Use it to
answer the following questions in your notebook:
 What characteristics are used to match up the chromosomes?
 Are the chromosomes lined up in the karyotype in any sort of
order? Explain.
 How many chromosomes do humans have in each cell?
 Why do you think chromosomes come in pairs?
Check your answers…..
 What characteristics are used to match up the karyotypes?
The bands made by the stains, the length of the chromosomes, the placement of
the centromere
 Are they lined up in the karyotype in any sort of order?Yes
 Explain- Largest to smallest
 How many chromosomes do humans have in each cell? 46
 What is the gender of the person for whom this karyotype was made? female
 How do you know? 2 X chromosomes
 How would the karyotype look different if it were the other gender? There
would be an X chromosome AND aY chromosome
 Why do chromosomes come in pairs? One of each pair comes from each
parent
Determining gender
 Notice that the last pair of chromosomes is labeled with letters
instead of numbers.
 The last pair of chromosomes are the sex determining
chromosomes.
 The longer chromosomes are called X and the shorter one is called
Y
 If the person has one X and oneY chromosome (one long
chromosome and one short chromosome) the person is male
 If the person has two X chromosomes ( 2 long chromosomes) the
person is female.
 On the next slide determine the gender of patientA and patient B
Now try making your own karyotype:
 Click this link:
 http://learn.genetics.utah.edu/content/begin/traits/karyotyp
e/
Karyotypes are used to diagnose
CHROMOSOMAL disorders
 Chromosomal
Disorders
 Affects a part of or an entire
chromosome (can affect many
genes)
 Usually results in a syndrome
(collection of symptoms)
 Can result from mutations such as…
• Too many chromosomes
• Too few chromosomes
• Broken or damaged chromosomes
How are karyotypes used?
 Use the link below to learn
about the procedures used to
obtain cells for karyotyping
 http://www.nlm.nih.gov/medli
neplus/ency/article/003935.ht
m
 Once you are at this site
research the following and
record your findings in your
notebook:
 Normal results for a karyotype
 Examples of disorders that can
be detected by an abnormal
karyotype.
Be a Genetic Councilor
 Click on the patient histories below and for each patient,
complete their karyotype.
 In your lab notebook write a brief report for each patient
telling me three things:
1) whether the patient is male or female
2) what is specifically wrong with the chromosomes in the
karyotype
3) what genetic disorder the karyotype shows.
 Patient Histories

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Karyotyping activitybiology2014

  • 2. Be a genetic councilor!  People- like all living things- have DNA in their cells which helps to determine how they look and how they function.  DNA molecules are coiled up around proteins (like thread on a spool) to make chromosomes.  Chromosomes can be used by genetic councilors to learn things about people.  Click  Genetic Councilors to learn about genetic councilors.  If chromosomes are damaged (chromosomal mutations) health problems can result.
  • 3. 1. Karyotype Definition: Picture of chromosomes, can be used to find out the gender of a person and also to diagnose some genetic disorders How is a karyotype made? ( process): • make chromosomes coil up in cell • stain chromosomes • find chromosomes using a microscope • take a picture of chromosomes • cut apart chromosomes, pair them up and line them up according to their number.
  • 4. This picture shows how the condensed and stained chromosomes would look under a microscope 
  • 5. The NEXT slide shows a finished karyotype. Use it to answer the following questions in your notebook:  What characteristics are used to match up the chromosomes?  Are the chromosomes lined up in the karyotype in any sort of order? Explain.  How many chromosomes do humans have in each cell?  Why do you think chromosomes come in pairs?
  • 6.
  • 7. Check your answers…..  What characteristics are used to match up the karyotypes? The bands made by the stains, the length of the chromosomes, the placement of the centromere  Are they lined up in the karyotype in any sort of order?Yes  Explain- Largest to smallest  How many chromosomes do humans have in each cell? 46  What is the gender of the person for whom this karyotype was made? female  How do you know? 2 X chromosomes  How would the karyotype look different if it were the other gender? There would be an X chromosome AND aY chromosome  Why do chromosomes come in pairs? One of each pair comes from each parent
  • 8. Determining gender  Notice that the last pair of chromosomes is labeled with letters instead of numbers.  The last pair of chromosomes are the sex determining chromosomes.  The longer chromosomes are called X and the shorter one is called Y  If the person has one X and oneY chromosome (one long chromosome and one short chromosome) the person is male  If the person has two X chromosomes ( 2 long chromosomes) the person is female.  On the next slide determine the gender of patientA and patient B
  • 9.
  • 10. Now try making your own karyotype:  Click this link:  http://learn.genetics.utah.edu/content/begin/traits/karyotyp e/
  • 11. Karyotypes are used to diagnose CHROMOSOMAL disorders  Chromosomal Disorders  Affects a part of or an entire chromosome (can affect many genes)  Usually results in a syndrome (collection of symptoms)  Can result from mutations such as… • Too many chromosomes • Too few chromosomes • Broken or damaged chromosomes
  • 12. How are karyotypes used?  Use the link below to learn about the procedures used to obtain cells for karyotyping  http://www.nlm.nih.gov/medli neplus/ency/article/003935.ht m  Once you are at this site research the following and record your findings in your notebook:  Normal results for a karyotype  Examples of disorders that can be detected by an abnormal karyotype.
  • 13. Be a Genetic Councilor  Click on the patient histories below and for each patient, complete their karyotype.  In your lab notebook write a brief report for each patient telling me three things: 1) whether the patient is male or female 2) what is specifically wrong with the chromosomes in the karyotype 3) what genetic disorder the karyotype shows.  Patient Histories