1. POCKET THEN: INTRODUCTION PAGE: UNIT 14 HUMAN HEREDITY
TEST DATE: MAY 1ST

2. Unit 14 Part 1 Human Heredity
PAGE 38

3. Take half sheet of paper:
Cut ½ sheet in ½ again
Fold ¼ sheet in ½ hamburger style

4. Write the following:
On the front
On the inside top

5. Outside front Human Chromosomes
A. Karyotype- an arrangement of chromosomes from longest to shortest. Used to determine some genetic disorders.
Outside front

6. Inside top to bottom B. Creating a karyotype
1. Pictures of chromosomes are taken during metaphase of mitosis.
2. The chromosomes are paired up
(23 pairs for humans)
3. The pairs are number 1-23.
a. Pairs #1-22 are called autosomes.
b. Pair #23 are called
sex chromosomes.
Inside top to bottom

7. Take other ¼ sheet Fold in half Write the following:
C. Sex(gender) Chromosomes
1. Determines the biological gender of an individual

8. a. Females =XX. All female gametes (eggs) contain ONE X chromosome
a. Females =XX. All female gametes (eggs) contain ONE X chromosome. ** Therefore, females can only pass on an X chromosome, for pair #23, to offspring.

9. b. Males= XY. All sperm contain either X or Y
b. Males= XY. All sperm contain either X or Y. Therefore, males pass on either an X or Y to offspring for chromosome pair #23. *This determines the biological sex of offspring.
Father X Y X
X X
X Y
Mother X
X X
X Y

10. Take ½ sheet of paper, fold in half

11. II. Human Traits A. Biologists must: 1
II. Human Traits A. Biologists must: 1. Determine if trait is controlled by a single gene 2. Determine that trait is not a result of environment 3. Study inheritance pattern of trait

12. B. Pedigree-Chart used to follow a trait through several generations.1. 2. 3.
**Half shaded circle/square indicates an individual that carries the recessive trait (heterozygous) but does not express the phenotype.
EX. Male Carrier
Glue to inside top
= Male
=Female
=Child/children
=Marriage
= Affected Male
=Affected Female

13. Glue to inside bottom 4. Roman Numerals=Generation Numbers
5. People are numbered from left to right starting over with 1 for each generation.
Glue to inside bottom I.
1 2
II.
III.

14. Page 38

15. DO NOT CUT ANYTHING YET

16. Unit 14 Part 2
Human Chromosomes

17. Human Genes and Chromosomes
A. Average gene has 3000 nucleotide base pairs
B. Largest more than 2 million nucleotide base pair
Base pairs

18. C. Portions of chromosome contain repeating segments of DNA-called ”repeats”/“Junk”. 1. Repeats are not genes (so they code for NOTHING) 2. “Junk” DNA is key in constructing humans “DNA fingerprint”

19. Scientist analyzing a DNA fingerprint

20. II. Human Genes
Human blood groups were one of the first identified by biologists.
Rh blood group is a single gene with two possible alleles (+ OR -)
1. Rh+/Rh+ = positive blood (ex. A+, B+, AB+ O+)
2. Rh+/Rh- = positive blood (ex. A+, B+, AB+ O+)
3. Rh-/Rh- = negative (ex. A-, B-, AB-, O-)

21. 4. Called Rh factor because it was discovered in Rhesus monkeys 

22. III. Gene Mutations
A. Gene disorders occur when there is a small change in
the DNA of ONE gene, this can affect the protein being
made.
This could cause serious genetic disorders.
1. Deletion of 3 bases in a gene on chromosome # causes a protein to fold improperly causing cystic fibrosis.
2. Substitution of a base in a gene on chromosome # produces wrong protein causing low O2 levels, proteins stick together causing sickle cell anemia.
a. Individual heterozygous for sickle cell are resistant to malaria.

23. IV. Autosomal Disorders (mutations of single genes on an autosome)
D/R
Name
Symptoms
Chrom# D
Polydactyly
Not known
Extra fingers/toes
Sickle Cell
Misshapen/”sickled red blood cells 11 Co
Mental deterioration, uncontrolled movements. First symptoms around
age 30. D 17
Huntington’s
nonfunctional enzyme for break down excess mucus in lungs, respiratory infections, cirrhosis of liver 7
Cystic Fibrosis R 15 R
Tay Sach
Lipid build up in brain, death in early childhood D
Achondroplasia
Form of dwarfism 4
Accumulation of galactose(sugar) mental impairment, liver damage 4 R
Galactosemia
Hypercholest-erolemia D
Excess cholesterol-heart disease 19

24. D/R
Name
Symptoms
Chrom# R
Albinism
Lack of pigment in hair, skin & eyes 15
Accumulation of phenylalanine. Severe mental impairment. Can be prevented with early detection.
PKU 12 R

25. Sex-Linked Disorders Unit 14 Part 3
V. Sex Linked Genes- Reproductive and sexual development genes are located on sex chromosomes (X-female) (Y-male)
Sex-Linked disorders
Carried on the X sex chromosome ONLY. NEVER on Y chromosome.
B. Can be recessive or dominant

26. 1. Recessive sex-linked disorders are expressed in males more often than females a. A female requires a recessive allele on BOTH X chromosomes to be affected. If she only has one she is a carrier. b. A male only requires one recessive allele, since he only has one X, to be affected c. A man can never be a carrier. Either affected or not.

27. C. Dominant sex –linked disorders are expressed in males and females equally. 1. If either has at least one dominant allele they are affected. D. There are more than 100 genes on X chromosome E. Y chromosome much smaller and has only a few traits like………

28. HAIRY EARS!!!!  Hey all you Y chromosome holders,
Look what you have to look
Forward to. At least you won’t
Need ear muffs in the winter 

29. VI. Sex Linked Disorders- affect one gene, on the X-sex chromosome.
HEMOPHILIA
COLORBLINDNESS
Recessive-individual lacks a protein for normal
blood clotting. Clotting protein now available.
XhXh XHXh XHXH
Hemophiliac Carrier Normal clotting
XhY- Hemophiliac XHY-Normal clotting
Recessive- inability to see certain colors.
(4 different patterns exist)
XbXb XBXb XBXB
Colorblind Carrier Normal vision
XbY- Colorblind XBY-Normal vision

30. 1. Normal Color Vision: A: 29, B: 45, C: --, D: 26
4 Sex-Linked Traits:
1. Normal Color Vision:  A: 29,  B: 45,  C: --,  D: 26
 2. Red-Green Color-Blind:  A: 70,  B: --,  C: 5,  D: --
3. Red Color-blind:  A: 70,  B: --,  C: 5,  D: 6
4. Green Color-Blind:  A: 70,  B: --,  C: 5,  D: 26

31. Cross a hemophiliac carrier female with a hemophiliac maleXh XH XH Xh Xh Xh Xh XH y Xh y y
Phenotype ratio:

32. Sex Linked Disorders Cont.
DUCHENNE MUSCULAR DYSTROPHY
HYPERTRICHOSIS
Recessive-progressive weakening and
loss of skeletal muscle.
Occurs later in childhood.
Dominant-Extreme hairiness on face.
XTXT XTXt XtXt
Hypertrichosis Hypertrichosis Normal
XTY- Hypertrichosis XtY-Normal

33. How stuff works Video: One Step Beyond hypertrichosis
Lionel- 5 years old- (1907 photograph)
How stuff works Video: One Step Beyond hypertrichosis

34. Glue fat part toward binding of notebook
Page 39
PART 3
PART 2
Glue fat part toward binding of notebook
Far right of paper

35. Notes Unit 14 part 4
Chromosomal Disorders- All or parts of (affects more than one gene!) an autosome or sex chromosome are affected. **Can occur in two ways

36. Nondisjunction
A. Nondisjunction- failure of homologous chromosomes to separate during meiosis results in: 1. Trisomy- three chromosomes at one location instead of 2 2. Monosomy-one chromosome at one location instead of 2

38. B. Chromosomal Disorders- affects all or sections of chromosome
Description
Turner’s (female)
Klinefelter’s (Male)
Down’s Syndrome (M & F)
Edward’s Syndrome
(M & F)
Patau Syndrome
Cri-du-chat
Monosomy of sex chromosome. Genotype XO.
Results in sterility
Trisomy of sex chromosome. Genotype XXY.
Results in sterility and female characteristics.
Trisomy of autosome #21. Delayed cognitive and
physical development. Heart defects.
Trisomy on autosome #18. Many physical and mental
Defects . Death in 1st year of life.
Trisomy of autosome #13. Many physical and
mental defects. Death in 1st year of life.
Deletion of autosome #5. Physical and mental defects.
Affects larynx. Baby’s cry sounds like a cat,
feeding problems, poor growth, hyperactivity.

39. Chromosomal Disorders Cont…
Triple X (XXX) Female
Jacobs Syndrome (XYY) male
No unusual physical features. Usually
taller and thinner than average.
Higher risk of learning disabilities.
In rare cases, severe mental
impairment
Learning problems. Tall, acne,
aggressive, delayed
emotional development.

40. VIII. Chromosome Inactivation
A. In females: one of the X chromosomes is randomly turned off, so genes are not duplicated. B. Turned off X, forms Barr body(appears as a dark spot in nucleus) C. Same process in other mammals 1. Calico cats are always female! 2. The 3 colors in cat’s fur result from different X’s turning off forming Barr body.

41. Antigens (proteins on outside of cell that let’s your cells know if they belong)
Blood Type
Has A antigens on cell (will fight any blood cells with B antigens) A
(AA or AO) B
(BB orBO)
Has B antigens on cell (will fight any blood cells with A antigens)
Has both A and B antigens on cell. Will not fight any blood cells. ***Universal Acceptor*** AB
(AB)
Has no antigens. Will fight blood with A or B antigens. **Universal donor** O
(OO)

42. 3. XHXH crossed with XhY 4. XBY crossed with XBXb 5
3. XHXH crossed with XhY 4. XBY crossed with XBXb 5. XbXb crossed with XBY 6. XhXh crossed with XHY