Cell division

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

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

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

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

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 • 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 • The old way to determine if someone is a heterozygote A A a A a a a Heterozygote ? ? ?

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

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 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 Autosomes and sex chromosomes

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

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

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. 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 T T T T C T

43. 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.