 The Scientific study of heredity  1850’s; 21 y.o.  Scientist + Mathematician  Paper: 1865  “Father of Modern Genetics”

 Easy to grow  Matures quickly  Produces generations quickly  Large # offspring  Cross and self pollination  *Each trait on a separate chromosome

Self Pollination: has both male and female parts

 Removal of Stamens  Transfer of pollen from a white flower to the purple stigma (P 1 - parents)  Carpel/peapod/seeds  Plant the seeds (F 1 - First Generation) First Filial

 Phenotype – the physical appearance of an organism. Determined by it’s alleles (maternal/paternal) “Photo”  Genotype – the genetic makeup of an organism“Genes” The many different alleles that an organism can possess: BB, Bb or bb (Often use the 1 st letter of the dominant trait)

 Homozygous – an individual who has the same alleles for a trait. Ex. 2 genes for cystic fibrosis (CC = homozygous dominant or cc = homozygous recessive)  Heterozygous – an individual who has different alleles for a trait. Ex. One gene for cystic fibrosis, one for normal (Cc)

 “True Breeding”  Parent generation = P  Offspring of P generation = F1  Offspring of F1 generation = F2

Phenotype: % Ratio: Genotype: % Hom. Dom. % Het. Dom. % Hom. Rec. Ratio: *HW: Key, Cross, Punnett, Answer

 Results  Statistics/Ratios  Conclusions ◦ Dominant/Recessive  4 Principles Notesheet

A trait is controlled by factors (genes) that occur in pairs

One gene in a pair can mask or hide the expression of the other gene (dominant vs recessive) Dominant allele: When only ONE of the alleles affects the trait. (Use a CAPITAL letter) Recessive allele: the allele that is NOT expressed if there is a dominant allele present. (Use a small letter).

A pair of genes (alleles) separate during the formation of sex cells (gametes) (Later learned that gametes are formed during meiosis…come together later to supply the alleles that form a trait)

The inheritance of one gene does not affect or depend on the inheritance of another gene *Mendel was looking at traits on different chromosomes….. *Modification: Linked genes are inherited together on a chromosome) **EXCEPTION: crossing over.

Handout:DOMINANT vs RECESSIVE  Dark Hair  Nonred hair  Dark Skin  Skin Pigment  Brown eyes  Near or far sighted  Astigmatism  Normal Hearing

Phenotype: % Ratio: Genotype: % Hom. Dom. % Het. Dom. % Hom. Rec. Ratio: *HW: Key, Cross, Punnett, Answer HW: #1-5,7 More Online Genetics Problems *Try 1-8, Intro for tomorrow: 9-13

 Neither gene dominates  Blending of traits  Notation: 2 different Capitol Letters Example: White Flowers x Red Flowers produce PINK flowers WWx RR = RW white red pink (HW #8-9)

 BOTH genes are expressed  Notation: 2 different Capitol Letters Example: “ROAN” cows/horses White/Red hair dispersed evenly …looks pink P176 L1 text…(HW #7) (HW #7)

 Genes on the X chromosome  Usually recessive; different chances male/female  Ex: Color-blindness, hemophilia  NOTATION: How males and females inherit: X Y = Normal vision male X c Y = Color blind male *More in males-50/50 X X = Normal vision female X X c = Female color blind carrier X c X c = Color blind female (or written with hashmarks X ’ X ’ )

 males get their X from their mother  fathers pass their X to daughters only  females express the trait only if they get a copy from both parents.  recessive in females; females can be ‘carriers’  ALWAYS expressed in males if present; can NEVER be carriers of X-linked traits (#20-24) Sex-Linked Inheritance Problem Sets

 White eyed fruit flies are the result of an X- linked recessive gene. Show the results from a cross between a red-eyed male and a white-eyed female Drosophila.  Indicate the results of each sex separately for genotype and phenotype.  Key: Cross: X R Y x X r X r or X Y x X ’ X ’  Answer *Phenotype: “Carrier Females” are considered “Unaffected/Normal”

 There are more than 2 alleles in the gene pool BUT an individual inherits only TWO (one allele from mom, and one from dad)  When there are 4 or more possible phenotypes for a particular trait.  Example: Blood Typing: Inherited A,B,O  Six GENOTYPE possibilities ??  = FOUR different bloodtypes: ?? (#10-12)

 3 different possible alleles for the blood type gene: Co-dominant A or B, or recessive O 4 possible Phenotypes: Genotypes:  Type AI A I A, I A I i (AA,AO)  Type BI B I B, I B I i (BB,BO)  Type AB I A I B (AB)  Type O I i I i (OO) (#10-12)

 …Rh Factor *FYI ONLY…..

Antigen on the surface of some RBC’s 85% US population is Rh+ (have Rh antigens present- the dominant trait) “D antigens” *FYI ONLY…..

 If a type O person marries a type AB person, what blood type could occur in their children? Remember, type O is recessive to both A and B  Key  Cross i i x I A I B  Answer (#10-12)

The factors for different traits are sorted into the gametes independent of each other. S = Smooth pea Y = Yellow Color 1.Determine all possible combinations of alleles in the gametes for each parent. DiHybrid Cross: Independent Assortment (#13-19)

Dihybrid crosses (#13-19)

DiHybrid Crosses Dihybrid Cross Problem Sets Dihybrid Cross Problem Sets Dihybrid Cross Problem Sets

 Mendelian Cross:  In Pea Plants, the flower color Purple is dominant to white.  If two heterozygous plants are crossed, what % of the offspring will be white? PROBABILITY: Same set-up: what is the probability that the offspring will be homozygous recessive? Probability that an egg from the F 1 (Pp) will receive a p allele = 1/2. Probability that a sperm from the F 1 will receive a p allele = 1/2. The overall probability that two recessive alleles will unite, one from the egg and one from the sperm, simultaneously, at fertilization is: 1/2 X 1/2 = 1/4. Rules of Multiplication n and Addition 10.35

 We can combine the rules of multiplication and addition to solve complex problems in Mendelian genetics.  Determine the probability of finding two recessive phenotypes for at least two of three traits resulting from a trihybrid cross between pea plants that are PpYyRr and Ppyyrr. ◦ There are five possible genotypes that fulfill this condition: ppyyRr, ppYyrr, Ppyyrr, PPyyrr, and ppyyrr. ◦ We would use the rule of multiplication to calculate the probability for each of these genotypes and then use the rule of addition to pool the probabilities for fulfilling the condition of at least two recessive trait. Using Probability Rules in Genetics:

 Pedigree charts follow a genetic mutation/disease through several generations of a family.  You can determine what chance offspring has of having a disease based on family history and Punnett Square.  The main diseases that are tracked this way are: ◦ Tay-sachs ◦ Huntingtons ◦ Colorblindness ◦ Hemophilia ◦ Cystic fibrosis

*Back of Problems Autosomal Recessive (nn)

Autosomal Dominant (D_)

*Dominant = Gray, Normal wings b+b vg+vg Where + is dominant

+

Calculating the frequency of crossing-over reveals the linear order of linked genes on a chromosome. Total Recombinant/Total # Offspring X 100 = 11% where 1% recombination = 1 map unit So the loci are 11 map units apart on the same chromosome (11 centimorgans) The closer two genes are to each other, the less likely crossing over will occur; genes are linked.

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 Examples of Nondisjunction ◦ Trisomy 21, 18, 13 ◦ Disorders involving the sex chromosomes:  XXY; XYY; XO ses/N100/2k2humancsomaldisorders.html

pH Neutral : Pink and Blue Acid: Blue Alkaline: Pink

 Leber hereditary optic neuropathy Leber hereditary optic neuropathy  Leigh syndrome Leigh syndrome  maternally inherited diabetes and deafness maternally inherited diabetes and deafness  mitochondrial complex III deficiency mitochondrial complex III deficiency  mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes  myoclonic epilepsy with ragged-red fibers myoclonic epilepsy with ragged-red fibers  neuropathy, ataxia, and retinitis pigmentosa neuropathy, ataxia, and retinitis pigmentosa  nonsyndromic deafness nonsyndromic deafness  palmoplantar keratoderma with deafness palmoplantar keratoderma with deafness  progressive external ophthalmoplegia progressive external ophthalmoplegia

 Null Hypothesis: A negative statement; NO statistical difference between the observed and expected.  dF: Degrees of Freedom (n-1)  X 2 Critical Number at the.05 level “The differences observed in the data were/were not statistically significant at the.05 level of probability, therefore the data supports/does not support the hypothesis that…”  P value “If the “p” goes low, Null must GO!!!” (p values less than.05 ARE considered statistically significant: differences and therefore are NOT due to random chance)