1. 1 Variation, probability, and pedigree Gamete production is source of variation and genetic diversity, an advantage of sex. –As a result of segregation and independent assortment, lots of combinations possible. –2 n possibilities exist for diploids where n = haploid number of chromosomes In humans, this is 8 million different gametes –Crossing over during meiosis creates even more combinations of genetic information –This diversity important in evolution, survival.

2. 2 Product law Product law used to calculate odds of an outcome from independent events –Flip a coin: heads or tails, 50:50 chance (1/2) –Flip a coin 3 times, get 3 heads; the next flip, there’s still a 50:50 chance of getting a head. –The chance of getting 4 heads in a row: ½ x ½ x ½ x ½ = 1/16 the product law. –Odds of round, yellow seeds in a cross of Ww GG x Ww gg: ¾ x 4/4 = 3/4

3. 3 Sum Law The sum law: outcomes of events are independent, but can be accomplished in more than one way. Flip a penny and a nickel: odds of 1 heads and 1 tails? There are 4 possible outcomes from this flip. 1 head, 1 tail can be from the penny being heads (odds 1/4), but also from the nickel (1/4): ¼ + ¼ = ½

4. 4 Human genetics How to determine inheritance of a trait in humans –Can’t (shouldn’t) mandate breeding partners –Low numbers of offspring. Pedigrees –Follow inheritance of trait in families –Compare results to other families –Draw conclusions.

5. 5 Key to pedigrees

6. 6 Pedigree sample-1 Look at inheritance of trait expressed by shaded individual. You KNOW that it can’t be dominant because at least 1 of the parents would also have to show that phenotype. *Look for things you know must be true.

7. 7 Pedigree sample-2 Beware of things that seem logical but might NOT be true. The Shaded trait is dominant. –“A” dominant, “a” recessive The mother must be aa. The father, however, may or may not be homozygous: If the father is AA, you would expect all offspring to be Aa (AA x aa = Aa); this is what appears to be true.

8. 8 continued BUT, if the father is Aa, the odds for each child showing the dominant phenotype is 50:50. Just like you can flip a coin 3 times and get heads each time, you could get 3 children that are all Aa, showing the dominant phenotype. The father COULD be Aa. Likely? No. Possible? Definitely.

9. 9 Pedigree problem from text A and a are alleles. Which is shaded? What are the genotypes? Find the sure things first. II 6 must have a recessive trait, being unlike both parents (who must be heterozygous).

10. 10 Genetic Notation -eukaryotes –Dominant: upper case; recessive: lower case. –From Plant studies Based on dominant/recessive relationships Letter describing trait: P p for Purple, white alleles –From animal studies; based on “wild type” concept Wild type is most common allele, indicated by “+” Example: e + / e where e + is wild type, slash separates alleles from homologs Example: Wr + / Wr shows mutant phenotype because Wr is a dominant mutant allele Multiple alleles: R 1 & R 2 ; I A & I B ;

11. 11 Mutation and phenotype Mutations are the source of new alleles A new allele may result in a new phenotype because of changes in enzyme activity –Enzyme usually has decreased or no activity –Enzyme may have increased activity usually, change in a regulatory gene –Enzyme may be unaltered despite change in DNA Allele only at DNA level, no other phenotype

12. 12 Alterations to Mendel Incomplete or partial dominance Codominance Multiple alleles Lethal alleles Gene interactions Sex-linked, sex-limited, & sex-influenced Effect of environment Extranuclear inheritance

13. 13 Incomplete or partial dominance www.people.virginia.edu/ ~rjh9u/snapdragon.html One allele only partially masks the other. Half as much enzyme makes half as much pigment. Phenotypic ratio is the same as genotypic: 1:2:1

14. 14 Partial dominance-2 Partial dominance is not common –A molecular phenotype showing partial dominance is more common –One allele instead of 2 is producing enzyme, so on a gel, a protein band is half as intense.

15. 15 Codominance M and N blood groups: L M L N –Glycoprotein on blood cell surface –If one of each allele, both expressed. –Phenotype = genotype, essentially –Heterozygote cross: shows 1:2:1 ratio http://boneslab.chembio.ntnu.no/Tore/Bilder/BlodMN.jpg

16. 16 Multiple alleles In peas, Mendel following the inheritance of two contrasting traits, e.g. purple vs. white flowers Often, more than two alleles for a trait exist. Study of multiple alleles requires a population! –In diploid organisms, an individual can only have a maximum of two alleles. (2 different alleles) –In populations, many different alleles may be present. –Classic example: the ABO blood group system

17. 17 ABO Blood groups http://science.uwe.ac.uk/StaffPages/na/abo_ho2.gif Series of sugars added to cell lipid creates trait. Genotypes include: AA, AO = type A BB, BO = type B OO = type O AB = type AB where A and B are co-dominant, O is recessive, and the blood type is the phenotype.

18. 18 Lethal alleles In genetic crosses, information is obtained by examining the phenotype of the offspring. –In some instances, the phenotype is lethal –Lethality may present itself late in life (Huntington Disease) or may result in no offspring. –Example: Fur color in mice: Agouti on left, yellow on right. http://www.cumc.columbia.edu/news/in-vivo/Vol1_Iss21_dec18_02/img/obesity-mice.jpg

19. 19 Lethal alleles-2 –If certain genotypes are lethal, results of a cross may be quite confusing. Agouti x agouti = all agouti Yellow x yellow = 2/3 yellow, 1/3 agouti Agouti x yellow = ½ yellow, ½ agouti –2:1 ratio is tip-off that something odd happens –Homozygous for yellow is lethal, so that genotype is NOT represented. –For lethality, yellow allele acts as recessive. –For coat color, yellow allele acts as dominant A = agouti, A y = yellow. Heterozygote is yellow.

20. 20 Complex inheritance and dihybrid crosses Book example: inheritance of simple trait and multiple allele trait: albinism and ABO –Crossing of heterozygotes Mm (albinism) and AB (blood type) –Assume independent assortment –Simple trait shows 3:1 ratio, co-dominant trait shows 1:2:1 ratio –Phenotypic classes in offspring no longer 9:3:3:1 Actually come out 3:6:3:1:2:1 Complex inheritance produces odd ratios.

21. 21 Really good practice problems http://www.biology.arizona.edu/mendelian_gen etics/mendelian_genetics.htmlhttp://www.biology.arizona.edu/mendelian_gen etics/mendelian_genetics.html Do all the problems from the links “Monohybrid cross” and from “Dihybrid cross”.