1. CHROMOSOME STRUCTURE page 12
EUKARYOTIC – DNA wrapped around histone proteins.
Banding pattern – dark – heterochromatin – non-coding
Light – euchromatin – DNA that codes for proteins

2. Prokaryotic chromosomes
DNA wrapped around DNA binding proteins forming a single circular chromosome

4. Eukaryotic chromosome

5. Map of chromosome #4

7. Chromosomes- sex determination

8. karyotype a way to show chromosomes in a cell
Usually taken at the metaphase stage
Arranged according to size, centromere position and banding patterns
Can detect unusual chromosome numbers, sizes and banding patterns

10. fluorescence in situ hybridization
A modification on karyotyping

13. Fish for cml – 9-22 translocation

14. Examples of diseases that are diagnosed using FISH include:
Prader-Willi syndrome, Angelman syndrome, 22q13 deletion syndrome, chronic myelogenous leukemia, acute lymphoblastic leukemia, Cri-du-chat, Velocardiofacial syndrome, and Down syndrome.

15. Sky karyotyping
Provides a color code to identify particular chromosomes

18. The Cell Cycle page 10

19. Mitosis

20. Meiosis Occurs in sexually reproducing organisms
Produces haploid gametes from diploid cells
Occurs in two stages
Meiosis I – homologous pairs separate
Meiosis II – chromatids separate
Four haploid gametes are produced ( for sperm cells / three polar bodies and one ovum)

21. Stages of Meiosis

22. L. CHROMO SOMAL DISORDERS IN NUMBER AND THEIR CONSEQUENCES
MUTATION page 21
L. CHROMO SOMAL DISORDERS IN NUMBER AND THEIR CONSEQUENCES

23. 1.NONDISJUNCTION VS. MOSAICISM VS. CHIMERA
NONDISJUNCTION - FAILURE OF HOMOLOGOUS CHROMOSOMES TO SEPARATE IN MEIOSIS

24. MOSAICISM - RESULTS
WHEN HOMOLOGOUS
CHROMOSOMES FAIL
TO SEPARATE
IN MITOSIS. FROM ONE
FERTILIZED EGG

25. CHIMERA - RESULTS FROM THE FUSION OF TWO CELL LINES - EITHER FROM A DOUBLE FERTILIZATION OR FROM THE FUSION OF TWO ZYGOTES. THE GENOTYPE XX/XY IS FORMED EITHER FROM THE EGG BEING FERTILIZED BY AN X SPERM & A Y SPERM, OR FROM THE FERTILIZED EGG & FERTILIZED POLAR BODY FUSING

26. 2. PLOIDY
AN EXTRA COMPLETE SET OF CHROMOSOMES; 3N- TRIPLOID; 4N - TETRAPLOID; USUALLY LETHAL, BUT MAY OCCUR IN HUMAN LIVER CELLS
Induced in plants (using colchicine) to produce
Seedless varieties

27. 3. SOMY
INVOLVES NONDISJUNCTION IN A PAIR OF CHROMOSOMES, EX. MONOSOMY & TRISOMY

28. a. AUTOSOMAL TRISOMIES
TRISOMY 21 - DOWN’S SYNDROME, occurs in all population subgroups and in chimpanzees
TRISOMY 18 - EDWARD’S SYNDROME few survive, then only a few weeks, occurs 4:1 in females:males
TRISOMY 13 - PATAU’S SYNDROME most die before the age of three months

29. b. GONOSOMAL ABNORMALITIES IN NUMBER
Turner’s Syndrome - XO a.k.a. gonadal dysgenesis
Klinefelter’s Syndrome - XXY, XXXY… a.k.a. seminiferous tubule dysgenesis
Polysomal X - Triple 47 XXX, Tetra 48 XXXX, Penta 49 XXXXX… a.k.a. “Super Female” tetra, penta - mental retardation

30. XYY - due to a nondisjunction in male germ cell, or a mitotic nondisjunction in zygote male tall with severe acne, was once believed to be correlated with criminal behavior, those advocating a eugenic philosophy proposed testing for and isolating the “genetic criminals” before they do society harm.

31. M. CHROMOSOME TYPES
METACENTRIC
SUBMETACENTRIC
ACROCENTRIC

32. CHROMOSOME TYPES (CONT.)
TERMINOLOGY OF THE ARMS
p - short arm
q - long arm

33. N. CHROMOSOMAL DISORDERS IN STRUCTURE
1. INVERSIONS - USUALLY DO NOT AFFECT THE GENOTYPE OF THE ORGANISM, THEY DO HOWEVER AFFECT LINKAGE GROUPS.

34. 2. TRANSLOCATIONS
A. RECIPROCAL - AN EXCHANGE BETWEEN NON HOMOLOGOUS CHROMOSOMES

35. (1) ANEUCENTRIC- PRODUCES DICENTRIC AND ACENTRIC CHROMOSOMES, ALMOST NEVER SURVIVE THE NEXT DIVISION

36. (2) EUCENTRIC - EACH RESULTING CHROMOSOME HAS ONE CENTROMERE
(2) EUCENTRIC - EACH RESULTING CHROMOSOME HAS ONE CENTROMERE. MOST COMMON TYPE OF TRANSLOCATION.

37. PHILADELPHIA CHROMOSOME
FOUND IN PATIENTS WITH CHRONIC GRANULOCYTIC LEUKEMIA - A TRANSLOCATION BETWEEN 22 & 9. THE LONG ARM PORTION OF 22 (22q) IS LOST AND THE LONG ARM OF 9 (9q) GAINS.

38. ROBERTSONIAN TRANSLOCATION/ FUSION
TRANSLOCATIONS OF UNEQUAL INTERCHANGES BETWEEN ACROCENTRIC CHROMOSOMES (14 & 21)

39. SAME GENETIC
MATERIAL,
BUT A DECREASE IN
# OF CHROMOSOMES

42. 3. DELETIONS
a) partial monosomy

43. ex. Wolf Hirschhorn Syndrome
4p-
deletion of the short arm of chromosome #4
defect of midline fusion

44. Cats Cry Syndrome - Cri-du-chat
5p-
mental and motor disorder
growth retardation
simian fold in the hands
microcephaly

45. Refractory Anemia Syndrome
5q-
increased platelet count

46. Wilms Tumor 11p- aniridia ambiguous genitalia mental retardation
kidney malignancy

47. Retinoblastoma 13q- DELETION OF TUMOR SUPPRESSOR GENE
RESULTS IN TUMORS
IN THE EYE