1. Cell division When one cell divides into 2 identical clones.
How then are we different?

2. Types of cell division Mitosis one mother cell into 2 daughter cells
In growth, replacement, are identical to one another
Meiosis one mother cell into 4 daughter cells
Production of sperm (4) and egg (1+ 3 polar bodies)
Will result in different individuals with differences.

3. Observable Patterns of Inheritance
What you are is a result of genetic expression
How Simple Traits Are Passed to the Next Generation

4. Genetic Terms: Genes: carry encoded information about specific traits
Locus: the position of a gene on a chromosome
Homologous chromosome: two chromosomes that contain the same genes in diploid cells

5. Figure: 20-01
Title:
Important terms in genetics.
Caption:

6. More genetic terms
Alleles: various molecular forms of a gene for some trait. (same yet different)
Homozygous: both alleles are the same
Heterozygous: the alleles differ
Dominant: (A) allele that shows the phenotype
Recessive: (a) allele that is masked

7. Table: 20-T01
Title:
Common terms in genetics.
Caption:

8. More gene words Homozygous dominant: AA Heterozygous: Aa
Homozygous recessive: aa
Genotype: is the sum of all genes
Phenotype: genes that are expressed

9. Mendels three basic rules
Inheritance is controlled by discrete units (genes)
Each diploid organism has two units for each trait (one from mom and one from dad)
In parents different units assort independently into gametes (law of segregtion)
if dad is heterozygous you have 50% probability of getting one or the other allele

10. Figure: 20-03
Title:
Gamete formation and freckles.
Caption:
Gamete formation by a female who is homozygous dominant for freckles (FF) and a male who is homozygous recessive for no freckles (ff) and the heterozygous (Ff) individual resulting from the union of these gametes.

11. The Pedigree Circles are females Boxes are males
Empty boxes are normal (average)
Filled boxes have the trait of interest
A horizontal line indicates a mating or a brother sister relationship

13. Figure: 20-07
Title:
The inheritance of cystic fibrosis is shown in this pedigree.
Caption:
A pedigree is constructed so that each generation occupies a different horizontal line, numbered from top to bottom with the most ancestral at the top. Males are indicated as squares, and females as circles. A horizontal line connects the partners in a marriage. An affected individual is indicated with a solid black symbol.

14. The Punnett Square
Provides a simple way to view patters of inheritance for a single pair of alleles

15. The Monohybrid cross A A A A A A A A A a a a
Mating of two individuals with contrasting forms of one trait
one of these traits will not show in the first generation
Possible Male gametes A A A A A
Possible Female gametes A A a a a

16. The testcross Homozygous recessive a a A A a A a a a ? ? ?
The old way to determine if someone is a heterozygote A A a A a a a
Heterozygote ? ? ?

18. Figure: 20-05b
Title:
Heterozygous parents and freckles.
Caption:
(b) A Punnett square showing the probable outcome of a mating between two people who are heterozygous for the freckle trait (Ff).

19. Figure: 20-05a
Title:
Heterozygous parents and freckles.
Caption:
(a) Gamete formation by a person who is heterozygous for the freckle trait (Ff).

20. Independent assortment
When 2 different traits assort they do so without any affect on one another
16 possible allele combinations exist 9:3:3:1 ratio in a dihybrid cross

21. Variations on Mendelian Genetics
Codominance: both alleles are expressed in heterozygotes like blood type
Multiple effects: one gene may have many phenotypes, cystic fibrosis, osteogenesis imperfecta
Penetrance: phenotype depends on other genes
Polygenic traits: result from 2 or more genes skin color, eye color, behavior, IQ

22. Height controlled by 3 genes
Figure: 20-10a
Title:
Human height varies in a continuous manner.
Caption:
(a) One reason is that height is determined by more than one gene (polygenic inheritance). This figure shows the distribution of alleles for tallness in children of two parents of medium height, assuming that three genes are involved in the determination of height. The top line shows the parental genotypes, and the second line indicates the possible genotypes of the offspring. Alleles for tallness are indicated with dark squares.

23. Chromosome variations
The chromosomal basis of inheritance

24. Gene: unit of a heritable trait
genes are located on chromosomes (locus)
genes of different chromosomes are inherited independently
genes on the same chromosome travel together

25. Autosomes and sex chromosomes
Autosomes consistently 44 chromosomes of the same quantity and type
Sex chromosomes: determine gender
females XX
males XY
all have 22 other chromosomes that are alike

26. Karyotype:
Is a visualization of the chromosomes where the chromosomes are lined up by size.
Is used to determine if an abnormality occurred.

28. The sex chromosomes
One of the few genes on the Y chromosome is the sry “make determining gene”
Only one copy of the X chromosome is required by the cells, the extra copy in females is stored in a condensed form
females are genetic mosaics because cell may express different X chromosomes

29. Figure: 20-11
Title:
X-linked genes.
Caption:
Genes that are X linked have a different pattern of inheritance than do genes on autosomes, as seen in this cross between a carrier mother and a father who is normal for the trait. The recessive allele is indicated in red.

30. Sex determination Gender is determined by the father’s sperm
X bearing sperm fertilizes an egg, a female results
Y bearing sperm fertilizes an egg, a male results
Y has the male determining gene

31. X chromosome inactivation in females
Most or all of one X chromosome is switched off in early development of the female
the female body is a mosaic of cells in which one or the other X chromosome is inactivated

32. Chromosome Linkage What chromosome a gene is located on
Chromosome #7 has CF
X is hemophilia
Y is TV clicker gene

33. Mutations Are a change in the sequence of a gene (DNA is altered)
can be
Neutral - no change in the information
beneficial - makes and organism better
harmful - can kill the organism

34. Genetic testing before birth
Figure: 20-14
Title:
Amniocentesis and chorionic villi sampling.
Caption:
Amniocentesis and chorionic villi sampling (CVS) are procedures available for prenatal genetic testing.

35. Human Genetic analysis
The pedigree, be able to write one out
abnormal: genetic condition that is a deviation from the usual or average and is not life threatening
genetic disorder: conditions that cause medical problems
genetic counseling: determining the probabilities and risks of having children

36. Patterns Autosomal Inheritance
Most of your genes have nothing to do with sex

37. Autosomal Recessive Both parents must be a carrier
only homozygous children are affected
3:1 ratio of normal to affected children
Phenylketonuria: mental retardation
Cystic fibrosis: build up of mucus in lungs
Tay-Sachs disease: lipid buildup in brain

38. Autosomal dominant Inheritance
Allele is expressed in each generation
Dwarfism: 4 feet in height
Progeria: rapid aging dies at age 10
Huntington’s disease: degeneration of nervous system after age 40.

39. Patterns of X linked inheritance
X linked recessive occurs more in males than females
Hemophilia A, Duchenne muscular dystrophy, Color blindness
Testicular feminizing syndrome
mutation in the X chromosome on male results in defective receptors for the male sex hormones
embryo develops into an apparent female

40. Chromosomes can be abnormal
Deletion
Duplication
Insertion
Translocation

41. A woman with cystic fibrosis comes into your Genetic counseling clinic
A woman with cystic fibrosis comes into your Genetic counseling clinic. She is going to marry her first cousin. What she wants to know that if they have children what is the probability that they will have a child with cystic fibrosis. Use your knowledge of genetics to give her an idea of the different probabilities.

42. Generation A B C T

43. What does the filled figure mean
What does the filled figure mean? What figure represents mails, which females. In what generation are the woman’s grandparents. Now that you know this information , what is the woman’s possibility of having a child with Cystic fibrosis? Using this example, explain why it is not a good idea for closely related individuals to have children together?

44. The widow’s peak is a feature where the hairline dips down the forehead in a v like pattern. Look at 3 generations of your family Draw a pedigree and give the names of all the members of your family. Indicate weather they have a widows pear or if they have a straight hairline. Indicate weather you think the widows peak is dominant or recessive give your reasoning. If your family is all straight or widows peak describe what type of results you would need in order to determine if a trait is dominant or recessive.