1. Human Genetics: Patterns of Inheritance for Human Traits

2. What is the difference between heterozygous and homozygous alleles?

3. What is the difference between dominant and recessive traits?

4. We will be discussing 5 Patterns of Inheritance for Human Traits 1. Single Allele Dominant 2. Single Allele Recessive 3. Sex Linked (X-Linked) 4. Multiple Alleles 5. Polygenic Traits

5. Single Allele Genes Regular traits that are either determined by a dominant or recessive allele on an autosome 1. Autosomal Dominant examples: a. Huntington’s Disease b. Achondroplasia (dwarfisim) c. Polydactyly (extra fingers and toes) 2. Autosomal Recessive examples: a. Albinism b. Cystic Fibrosis c. Sickle Cell Anemia

6. 1. Dominant Allele Disorders Huntington’s Disease (HD)  Results in loss of muscle control and mental deterioration  No signs are shown until 30’s  Brain degeneration  Treatment: No cure, but drug treatments are available to help manage symptoms.

7. 1. Dominant Allele Disorders Achondroplasia  Dwarfism  Person grows no taller than 4’4

8. 1. Dominant Allele Disorders Polydactyly  The presence of more than the normal number of fingers or toes.  Can usually be corrected by surgery.

9. 2. Recessive Allele Disorders Albinism  Lack of pigment in skin, hair, and eyes  Mutation in one of several genes which provide the instructions for producing one of several proteins in charge of making melanin.

10. 2. Recessive Allele Disorders Cystic Fibrosis (CF)  Caused by recessive allele on chromosome 7  Small genetic change (removes one Amino Acid)  changes protein  Results in: Excess mucus in the lungs, liver and digestive tract, gets infection easily, and early death unless treated.

11. 2. Recessive Allele Disorders Sickle Cell Disease  Red blood cells are bent and twisted  Get stuck in capillaries  damage tissues  Results in weakness, damage to brain and heart

12. What is genotype? What is phenotype?

13. 3. Sex Link Traits: Genes on the X and Y chromosomes

14. Human Chromosomes: 2 Sex Chromosomes

15. Human Chromosomes: 44 Autosomes

16. Gender  We determine the gender of an individual through sex chromosomes  Sex Chromosomes: X and Y Female: XX Male: XY The father gives an X or Y to the gametes. The mother only gives an X to the gamete  The X chromosome is larger than the Y chromosome.

17. What are sex-linked genes?  genes found on a sex chromosome X-linked genes are genes found on the X chromosome, symbolized by X r, X R, Y 0. Y-linked genes are found on the Y chromosome, symbolized by X 0, Y R, Y r

18. Sex-Linked Traits It is possible for a female to be a carrier of an X- linked trait, but not express it Men will express all X-linked traits they inherit because they have one X chromosome X-linked recessive, carrier mother Unaffected son Unaffected daughter Affected son Carrier daughter Unaffected father Carrier mother Carrier Affected Unaffected

19. X-linked Genes Let’s do a punnett square for a female carrier of an x-linked gene and a recessive male What will the genotypes be? X R X r and X R Y

20. Here’s the results For girls: 0% have the trait For boys 50% have it. Probability is higher for boys because whatever X they get determines the trait, for girls they have to get 2 recessive X’s. XRXR XrXr XRXR XRXRXRXR XRXrXRXr Y0Y0 X R Y 0 XrY0XrY0

21. Examples of X-linked traits: 1. Color Blindness 2. Hemophilia 3. Muscular Dystrophy 4. Icthyosis simplex (scaly skin)

22. Colorblindness Colorblindness A person with normal color vision sees a number seven in the circle above. Those who are color blind usually do not see any number at all.

23. Colorblindness RED-GREEN COLORBLINDNESS: People with red-green color blindness see either a three or nothing at all. Those with normal color vision see an 8.

24. Hemophilia Hemophilia- Lacking in the ability to clot blood ◦ There is a gene on the “X” chromosome that control blood clotting ◦ People who have hemophilia are missing the protein to clot blood ◦ They can bleed to death by minor cut.

25. Muscular Dystrophy - Results in weakening/ loss of muscles - Caused by defective version of gene that codes for muscle

26. Sex-influenced Traits Sex-Influenced traits are those that are on autosomes, but occur because of the sex hormones in male and female bodies. Examples: Facial hair Baldness

27. 4. Multiple Alleles Multiple Alleles – any gene that has 3 or more alleles (not just 1 dominant and 1 recessive) Example: Blood type has 3 alleles: Example: Blood type has 3 alleles: I A = Type A blood (dominant) I B = Type B blood (dominant) I B = Type B blood (dominant) i = Type O blood (recessive) i = Type O blood (recessive)

28. Check out the possible genotypes and phenotypes of blood below: GenotypesPhenotypes I A I A or I A iType A I B I B or I B iType B IAIBIAIB Type AB iiType O

29. Blood has both Multiple Alleles and is CoDominant If you have I A I B as your genotype, you have both Type A and Type B blood, also known as Type AB If you have I A I B as your genotype, you have both Type A and Type B blood, also known as Type AB If you have I A i, i is recessive to I A, so you have type A blood If you have I A i, i is recessive to I A, so you have type A blood Q. When would you have Type O blood? Q. When would you have Type O blood? A. When you have ii as your genotype. A. When you have ii as your genotype.

30. 5. Polygenic Traits – traits controlled by 2 or more genes that interact, forming the trait  Usually show a wide range of phenotypes  Ex: Skin color, eye color, foot size, height  Wide range of skin colors because there are more than 4 genes that control this trait.  These may also be influenced by the environment, for example height. If not given the proper nutrition as a child, they might not be as tall as their genes dictate.