1. Inherited Diseases
and Mutations

2. Deoxyribonucleic acid
Genes are made out of DNA or deoxyribonucleic acid. DNA is a chemical language that makes each of us unique.

3. Replication….. When DNA copies itself it is called replication.
Sometimes when replication takes place a mistake in the sequence of DNA is made
Entire sections of DNA can be deleted or added in where they don’t belong

4. Two processes that
involve replication…

5. Meiosis: A process in which gametes (sex-cells) are Formed.
Egg = female gamete
Sperm = male gamete
each gamete carries half
of the genetic information from
The parent organism

6. a mutation in one of these which is passed on to the23
Humans have 23 pairs
of chromosomes
Sometimes there may be
a mutation in one of these
which is passed on to the
Offspring.

7. Interesting fact: may not replicate normally
Females are born with
All of the eggs they will have
During their lives.
Males produce sperm beginning
In puberty and continuing througout
life.
Down Syndrome is more common
In children born after a woman’s 40th
Birthday. The eggs are 40yrs old and
may not replicate normally

8. Mitosis A process of cell division that makes an organism grow.
How is that different
from meiosis?
During both of these processes it is
possible
for mutations to occur.
Cancer is mutated cells that are able
to replicate.

9. Let’s take a look at
a few examples of
mutations

16. Mutations A mutation occurs when DNA changes Most mutations are not
harmful…. Sometimes mutations
can give
an organism an advantage….
Most mutated cells die
Some however can cause disease
or disorders in humans
(4000 in humans)

17. well just a little maybe!
Harmful?.....not at all!
scary…
well just a little maybe!

18. Mutagens
Substances that
are known to cause
mutations…………

19. Cigarette smoke

20. Healthy lung vs. smoker’s lung

21. Sun…..skin cancer

22. Skin cancer

23. Melanoma

24. Radioactive material

25. Chernobyl… a Russian nuclear power plant that had a melt down

26. Children were born with birth defects due to the exposure of the gametes to radiation

27. Children suffer from cancer related diseases Cancer in children has increased dramatically in the Ukraine and Bellarusse after the Chernobyl disaster. According to WHO, cancer of the thyroid glands has increased 100 times. Studies by Professor Juri Zozola, of people that lives in radioactive areas, have proven that even small doses of radiation effects the brain and eventually cause diseases. Professor Zozola is deeply concerned about these results which indicate that the number of currently diagnosed people suffering radiation related disease is only the top of the iceberg. That radioactive exposure to girls and fertile women involve consequences to their genes and reproductive systems is certain.

28. The female gametes were affected and therefore the children born were also affected.
A female has all of the eggs she will have for her entire life when she is born. Unlike males who don’t produce sperm until later.

35. Pollution…
just another mutagen!!!

38. Can mutations affect offspring
If a person smokes cigarettes and gets lung cancer, can they pass lung cancer on to their children?
What about if a person gets skin cancer from laying out in the sun without using sunscreen?
The only mutations that can be passed on to children are mutations that affect the sex cells or gametes. If a person is born with a condition….yes, they can pass it on. If a person is exposed to radiation in an amount large enough to affect their gametes…yes, they can pass it on to their children. (example: Chernobyl)

39. Inherited diseases
Most diseases are caused by the effects of inherited genes
Even though the difference between the DNA sequence can be small, some serious and even fatal diseases can be caused.
Recessive genes cause most inherited diseases.
If a person has one recessive allele, they are a carrier of the condition, but do not have the condition themselves.
If a person has two recessive alleles, they have the condition.

40. Lets look at some
inherited diseases

41. Cystic fibrosis
About 1 in every 2000 children born in the united states have cystic fibrosis
This disease causes a thick mucus to clog the airways and the lungs. Bacteria grow in mucus and destroy the lungs.
Carried on chromosome #7
Caused by a recessive allele

44. Infected lung normal lung

45. Treatment Breathing treatments to clear the lungs
“clapping” the chest or back to break up mucus and expel it
Coughing to expel the mucus
Life expectancy has improved because of new treatments

46. Sickle Cell Anemia Caused by a recessive allele
1 in 500 children born with this condition

47. More common among African Americans but anyone can be born with sickle cell

48. Irregular shaped red blood cells that carry
less oxygen….. Take up space in the blood.

49. it has to work harder because
Overworks the heart…
it has to work harder because
some of the cells
it is working to pump
around are not working
the way they should

52. TREATMENT There is no cure for this disease
Medicines can be taken to help with infections
Blood transfusions can be given

53. Achondroplasia
Condition in which a person is far below the normal size.
Caused by a dominant allele
Limbs are shorter than normal
Possible to have normal sized children

54. Albinism Condition caused by a recessive gene
Inability to produce pigment in some or all organs resulting in abnormally light skin, hair.
Eyes are usually red because the iris lacks pigment.
Can be found in other animals