1. Genetic Mutations & Pedigrees

2. Genetic Mutations & Pedigrees
Alleles that code for defective proteins can cause mutations & even deadly disorders, which are passed on to us as inherited traits.

3. Mutations can Cause Disorders
Sickle Cell Anemia:
Is caused by a mutated allele that produces a defective form of a blood protein called hemoglobin.
Hemoglobin is found inside our red blood cells & is important because it carries oxygen throughout the body.

4. Sickle Cell Anemia
This disease causes red blood cells to bend into a sickle shape.
Sickle-shaped cells burst easily & do not function in carrying oxygen very well.

5. Sickle Cell Anemia
For most sickle cell anemia is considered harmful, but for some it is beneficial.
The recessive allele responsible for bending cells into a sickle shape helps protect some individuals in Africa and other countries from contracting another disease called malaria, a disease caused by parasitic protists that invade red blood cells & is carried by mosquitoes.

6. Sickle Cell Anemia
People who are heterozygous for sickle cell anemia have a mix of normal red blood cells and sickle-shaped cells.

7. Sickle Cell Anemia
Sickle-shaped cells can’t be invaded by parasites & normal red blood cells provide enough oxygen for all body tissues, so a person with sickle cell anemia has the benefit of normal blood cells to give oxygen & sickle cells, which parasitic protists can’t invade.

8. Sickle Cell Anemia
People who are homozygous recessive do not have this protection from malaria and all of their red blood cells are sickle-shaped due to the defective protein hemoglobin.

9. Hemophilia
Hemophilia is a condition that impairs the blood’s ability to clot.
Two of the genes that code for proteins that cause this condition are found on only on the X chromosome.
Because of this, males have an increased risk of inheriting this disorder because it is a sex-linked trait.

10. Chromosomes & Mutations
Each of our 46 chromosomes contain thousands of genes that play an important role in determining how our bodies grow and function.
All genes must be present in order for our bodies to function properly. Think about it… would a car drive without an engine, transmission or wheels?

11. Chromosomes & Mutations
In most cases, humans that are missing even one chromosome do not survive embryonic development and are never born.
When a chromosome is missing, this condition is called a monosomy.
When there is a chromosome has an extra copy this condition is called a trisomy.

12. Chromosomes & Mutations
Monosomies, trisomies and other genetic abnormalities can be detected by looking at a karyotype of a person’s chromosomes.

13. Chromosomes & Mutations
A karyotype is a picture of each pair of chromosomes in a cell.

14. Chromosomes & Mutations
Down’s syndrome (also known as Trisomy 21) is a genetic deviation that results in short size, a round face & varying degrees of mental retardation. Why do you think this occurs?

15. Chromosomes & Mutations
What events cause an extra copy of a chromosome to occur?
When a cell divides normally each chromosome & its homologue separate in a process called disjunction.

16. Chromosomes & Mutations
When normal disjunction (separation of chromosomes) does not occur nondisjunction results so that one of the new cells ends up getting both chromosomes of the pair and the other cell gets none.

17. Chromosomes & Mutations
Prenatal testing can be performed on a pregnant woman to detect genetic abnormalities:
1. Chorionic villi sampling
2. Amniocentesis

18. Prenatal Testing Chorionic villi sampling- performed at 8-10 weeks.
A sample is taken from the villi that extend down into the mother’s uterus.
The villi contain the same genetic information as the fetus so the cells can be used to construct a karyotype to detect genetic abnormalities in the fetus.

19. Prenatal Testing

20. Prenatal Testing Amniocentesis- performed at 14-16 weeks
A sample of amniotic fluid is taken from the sac surrounding the fetus which contains fetal cells, which are used to make a karyotype.

21. Genetic Mutations
While rare, changes in an organism’s chromosome structure can occur. Some changes can cause mutations in the genes like these:
1. Deletions
2. Duplications
3. Inversion
4. Translocation

22. DELETIONS
This mutation that occurs when a fragment of a cell breaks off as the cell divides.

23. DUPLICATION
A mutation that occurs when a chromosome contains an extra segment of DNA.

24. INVERSION
A mutation that occurs when a chromosome fragment re-joins its original chromosome, but its nucleotides are reversed.

25. TRANSLOCATION
A mutation that occurs when a fragment of DNA joins a nonhomologous chromosome.

26. Chromosome Abnormalities
Many chromosomal abnormalities can occur on the sex chromosomes.
For example:
XXY- Kleinfelter’s Syndrome is caused by an extra chromosome.
XO- Turner’s Syndrome is caused by a missing chromosome.

27. Kleinfelter’s Syndrome
Karyotype of a male with an extra X chromosome

28. Kleinfelter’s Syndrome
Male with Kleinfelter’s syndrome

29. Turner’s Syndrome
Karyotype of a female missing an X chromosome

30. Turner’s Syndrome
The most common characteristics of Turner syndrome include:
short stature
lack of ovarian development
webbed neck
arms that turn out slightly at the elbow
low hairline in the back of the head
also prone to cardiovascular problems, kidney and thyroid problems, skeletal disorders such
scoliosis (curvature of the spine) or dislocated hips, and hearing and ear disturbances.

31. Tracking Family Traits using Pedigrees
How might you learn if you have genetic abnormalities or mutations in your family?
In order to study heredity, scientists use pedigrees to analyze a family history.
These help identify which relatives exhibit certain traits.

32. Tracking Family Traits using Pedigrees
Pedigrees can determine if a trait is sex-linked & whether a particular trait is dominant or recessive.

33. Tracking Family Traits using Pedigrees
If a female carries the gene for a trait, but does not actually have that trait she is called a carrier.
In sex-linked traits mothers are usually carriers that pass a trait on to their sons on the X chromosome.
* Add to your notes!

34. Tracking Family Traits using Pedigrees
Look at the last page of your notes to try and track the trait of albinism (a lack of pigmentation) in a family by using a pedigree.
Is the trait sex-linked?
Is the trait dominant or recessive?
Is it caused by one gene or by several?

35. ALBINISM