1. Inheritance
Patterns

2. Eukaryotic Cell Nucleus

3. Gamete Formation
Meiosis Animation
Haploid # 2
Diploid # 4

4. Crossing Over Meiosis Animation

5. Conception
Sammy sperm entering Emily egg...

6. A few hours after conceptionL E A V G

7. Mitosis Review
Mitosis Animation
Anaphase
Prophase
Metaphase
Telophase

8. prophase G1 S G2 metaphase telophase anaphase Mitosis Animation
Daughter cells
Mitosis Animation

9. Karyotypes A profile of a person's chromosomes
Arranged and numbered by size, from largest to smallest
Used to identify chromosomal aberrations
that may result in a genetic disorder
Abnormal positions of chromosomes, extra pieces or
missing pieces usually cause problems with a person's
growth, development, and body functions
Prepare a standard karyotype using Metaphase cells
from most populations of dividing cells

10. Chromosomal deletions Chromosomal insertions Chromosomal duplications
Nondisjunction
Chromosomal deletions
Chromosomal insertions
Chromosomal duplications

11. Caused by Nondisjunction
Polyploidy
Most common is Trisomy
Caused by Nondisjunction
35%
Trisomy
conceptions
< 1% 15 30 45
Mother’s Age Years

12. Down Syndrome Karyotype
Trisomy 21

13. Cleft Palate Trisomy 13 Patau Syndrome 1 in 15,000 live births
Condition is Lethal

14. Klinefelter Male
XXY occurs 1 in 1000 births

15. Kleinfelter’s Syndrome Trisomy Animation
People with this disorder develop
as males with subtle characteristics
that become apparent during puberty.
They are often tall and usually do not
develop secondary sex characteristics
such as facial hair,
or underarm and pubic hair.

16. Autosomal
Dominant
Recessive

17. d d d d d d d d d d d

18. Examples of Autosomal Dominant Inheritance
Achondroplasia = dwarfism associated with defects
in growth regions of long bones
Familial Polycystic Kidney Disease = formation of cysts in kidneys; leads to hypertension kidney failure
Familial Hypercholesterolemia =Elevated levels of cholesterol; predisposes to plaque formation, cardiac disease,maybe the most prevalent genetic disease
Huntington Disease =Progressive degeneration of the nervous system,Dementia, early death
Marfan Syndrome = Connective tissue defect; death by aortic rupture

19. Achondroplasia
Autosomal Dominant
Autosomal Recessive

20. Usually inherited as an autosomal dominant
Polydactyly demonstrates how gene expression
can vary. As the human embryo develops, a
dominant allele “D” controls how many sets of
bones will form in the hands and feet.
The “Dd” genotype varies in how it is expressed.

21. Autosomal Dominant Disorder
Huntington’s Disease
Autosomal Dominant Disorder
Brain Deterioration

22. Flo Hyman died from Marfan Syndrome
Autosomal Dominant
AFFECTS
Skeletal System
Cardiovascular System
Eyes...

23. Abraham Lincoln Marfan Syndrome?

24. n n n n n n n n

25. Examples of Autosomal Recessive Inheritance
Albinism = absence of pigment in skin, eyes, hair
Cystic Fibrosis = mucous production that blocks ducts of certain
Glands, lung passages, often fatal by early adulthood
Galactosemia = accumulation of galactose in liver; mental retardation
Phenylketonuria = excess accumulation of phenylalanine in blood,
Mental retardation
Sickle Cell Anemia = abnormal hemoglobin, blood vessel blockage,
Early death
Xeroderma Pigmentosum = lack of DNA repair enzymes, sensitivity to
UV light, skin cancer, early death
Tay-Sachs Disease = improper metabolism of gangliosides in
Nerve cells; early death

26. Albinism No Pigmentation No Expression of the Melatonin Genes
is an Autosomal Recessive Condition
No Expression of the Melatonin Genes
No Pigmentation

27. Sex-Linked

28. Hairy Ears is a Y-linked Trait.
One allele produces non-hairy ears
the other allele produces rather long hairs.

29. Sex Chromosome Inheritance Pattern X-linked Recessive
Most common
Sex Chromosome Inheritance Pattern X-linked Recessive
Hemophilia = defects in blood clotting mechanisms
Adrenoleukodystrophy = atrophy of adrenal glands,
Mental deterioration, death 1 to 5 years after onset
Colorblindness = some forms
Muscular Dystrophy = Duchene type; progressive
fatal condition; accompanied by muscle wasting

30. How X-linked inheritance works
One Possible Scenario The female sex chromosomes
of an unaffected mother
(who carries an auditory condition)
have one faulty gene
and one normal gene.
The father has the
normal gene on the X chromosome,
and a normal Y chromosome.

31. R r
Hears
Hears R R R R R R R

33. Affected Male

34. Color Blindness: Sex Linked
What number
do you see? #8
She Blinded me…
X linked

35. The individual with normal color vision
will see a 5 revealed in the dot pattern. An individual with Red/Green (the most common) color blindness
will see a 2 revealed in the dots.

36. Multiple Alleles

38. Rh factor + or -- In addition to the blood group (A, B, O, AB),
the Rh factor is either positive (present)
or negative (absent).
Rh positive is autosomal dominant!
This factor does not effect your health
except during pregnancy.

39. A woman who is negative Rh factor
Married to a man who is positive Rh factor
This combination can produce a child who is Rh positive.
Mother's and baby's blood systems are separate
If the blood from the baby mixes with mother's blood,
it can cause the mother to create
antibodies against the Rh factor.
The Rh positive baby becomes
an intruder in his/her mother’s uterus

40. Both alleles are expressed as Dominant in the heterozygote
Co-dominance
Both alleles are expressed as Dominant in the heterozygote
Intermediate/Incomplete Dominance
Alleles blend in the heterozygote