2.what are the four different types of chromosome mutations? · pdf filegene and a chromosome...

Bell Work: Turn in HW. Finish chromosome mutation activity. If you’re done, answer the following questions:

1.What is the difference between a gene and a chromosome mutation?

2.What are the four different types of chromosome mutations?

3.What is a karyotype?

Tuesday, January 15, 2013





a gene mutation affects just one nucleotide of just one gene; a chromosome mutation affects a much larger piece

of a chromosome






deletion, inversion, duplication, translocation


of a chromosome






deletion, inversion, duplication, translocation


of a chromosome

a picture of an individual’s chromosomes


Quick Question

• Tay-Sachs disease results from a frameshift mutation on Chromosome 15, where it does not have the enzyme hexosaminidase A. What kind of frameshift mutation was this? What resulted?


Karyotypes1. How many chromosomes does a person have?2. Where does each set of chromosomes come from?3. What is the name for a cell with two sets of chromosomes?4. Is this person a male or a female?

Normal Karyotype



46

Normal Karyotype



46

from each parent

Normal Karyotype



46

from each parent

diploid Normal Karyotype



46

from each parent

diploid

male

Normal Karyotype


Down Syndrome• Cause: 3 copies of chromosome 21

• Symptoms: some impairment of cognitive ability, particular set of facial characteristics


Turner Syndrome• Cause: females with only one X chromosome

• Symptoms: short stature, swelling of hands and feet as infants, sterile


Klinefelter’s Syndrome• Cause: males with extra X chromosome

• Symptoms: limited intelligence, sterile


Cri-du-chat• Cause: a piece of chromosome 5 is deleted

• Symptoms: sever cognitive, speech, and motor delays


Catalysts for Mutations• Mutagens: external agents that change

DNA

• Ex: Radiation (x-rays); chemicals

• Carcinogens: mutagens linked to cancer

• Skin cancer: linked to ultraviolet rays from the sun and tanning beds

• Chemicals: tobacco, asbestos, benzene, pesticides


Karyotype ActivityDirections: Arrange the chromosomes into their 23 pairs. Determine if the individual is affected with any type of chromosome disorder, and if so, identify what the disorder is.


1. Cri-du-chat


2. Female w/ Down Syndrome


3. Male w/ Down Syndrome


4. Normal Female


5. Klinefelter’s Male


6. Turner Syndrome Female


2.what are the four different types of chromosome mutations? · pdf filegene and a chromosome...

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