GENETICSHistory of genetics Genetics- study of inheritance Trait- characteristic that can be passed from parent to child Ex. Hair color, eye color, etc. Ex. Pea plants- seed shape, height, flower color In the past, people explained heredity by saying that traits from parents were “blended” (blending hypothesis) We now know that during cell division, chromosomes are distributed through gametesMendel's experiments Gregor Mendel Father of genetics Austrian monk Began work in 1860's Used 20,000 pea plants to study how traits are passed from one generation to the next Found that his results did not support the “blending hypothesis” (Why was this? How did he know it wasn't right?)Mendel's experiments (cont.) Purebr-~ = Org Pea Flower Penta = Pea i Male eding (spe = Alsi Hybric = Org froi = Pea diff = Als Female part parts tic trait | fromMendel's observations Started by crossing 2 different purebred plants (called parent or P generation) by cross pollination 1st generation of offspring (what he got from crossing two parent plants) called F, generation All hybrid offspring only had the character of ONE of the parents (NO BLENDING!) Allowed F, plants to self-fertilize to produce F, generationMendel's observations (cont.) Generation Cross (pea color) Results iP Yellow x Green All yellow F; Yellow x Yellow 3 Yellow 1 Green F, Differs DiffersMendel's observations (cont.) Repeated experiment with 6 other traits Flower color (purple/white) Flower position (axial/terminal) Pea shape (round/wrinkled) Pod color (green/yellow) Pod shape (inflated/constricted) Height (tall/short) Defined each form as dominant (75% of F2) or recessive (25% of F2)Gene Section of a chromosome that codes for a trait Allele Different form of a gene (usually two) Represented by a letter Ex. B- brown eyed allele, b- blue eyed allele —.__ = Two alleles make up a gene Dominant RecessiveGene (cont) Dominant allele Form of allele that is expressed (shown) when different alleles are present Always represented by a CAPITAL letter Ex. T- tall plant, P- purple flowers Recessive allele Not expressed when the dominant allele is present (only when both are recessive) Always represented by lower case letter that is the SAME as the letter that represents dominant allele Ex. t-short plant, p- white flowersGenotype Genetic make-up of an organism Included both genes in a homologous pair of chromosomes In the form of LETTERS that represent genes Ex. Bb (brown eyes), PP (purple flowers)Phenotype Outward expression of a trait In the form of WORDS that describe the trait Ex. Green eyes, button nose, green pea colorGenotype Phenotype Homozygous TT Tall (dominant) Homozygous tt Short (recessive) Heterozygous Tt Tall (hybrid) *Sometimes this could be a mix of two traits*Example problem Ex. Flower color Purple is dominant, white is recessive Use P for dominant, p for recessive Genotype for homozygous? PP OR pp Genotype for heterozygous? Pp Phenotype for homozygous? Purple or white Phenotype for heterozygous? Only purpleMendel's Laws Law of Segregation When individual produces gametes, the copies of a gene separate so that each gamete receives only one copy (p. 265-266) Law of Independent Assortment Alleles of different genes assort independently of one another during gamete formation (p. 270-271) Law of Dominance Some alleles are dominant and some are recessive (p.264-265Mendel's Laws Law of Segregation Only one characteristic can be found in a gamete Ex. Blue eyes vs. brown eyes (can only have one of them) Law of Independent Assortment For two characteristics, the genes are inherited independently of one another Also called the "Inheritance Law" Ex. If you had the genotype AaBb you would make four kinds of gametes: they would contain the combinations of either AB, Ab, aB or ab.Mendel's Laws (cont.) Law of Dominance- When an organism has two different alleles for a trait (is a hybrid or heterozygous), the allele that is expressed is the dominant one Ex. Blue eyes vs. Brown eyes (Bb- brown is expressed therefore it is dominant)One trait (monohybrid) Punnett Square Grid used for organizing genetic info and making predictions When studying the inheritance of only one trait, called a monohybrid cross For the first examples, we will only be testing the complete dominance condition (where one allele completely dominates over the other)Rules for monohybrid crosses Determine parent genotypes (big letter for dominant, little letter for recessive) Segregate alleles and place alleles of each parent on top and side of four-squared grid (mom's on one side and dad's on the other) Combine parent alleles inside boxes (letters inside boxes show POSSIBLE genotypes of of fspring- not ACTUAL) Determine phenotypic ratio and possible genotypes in the following format: Fraction, probability statement, phenotype (genotype) Ba % cbetb (Could Be Expected To Be) purple (PP, Pp = cbetb white (pp) MUST BE LIKE THIS EVERY TIMEllll!Example monohybrid cross Yy x Yy Yy = yellow, y = greenExample monohybrid cross Ss x ss S = smooth, s = roughExample monohybrid cross Purple flowers are dominant over white flowers in pea plants. Cross a heterozygous purple plant with a white plant. Parent genotypes? Pp PPPredictions for two traits Like tossing two coins at once (outcome of one doesn't affect outcome of the other) Involves two separate traits How many letters will we use this time? 2 different ones!! Called a dihybrid crossRules for dihybrid crosses Figure out all possible allele combinations Place combinations for both male and female on top and side of 16 square Punnett Combine parent alleles inside boxes Determine phenotypic ratios (no need to go through and do genotypes)Practicing allele combinations AaBb —> = AB, Ab, aB, ab AABB —> = AB, AB, AB, AB (or just AB) aabb —> = ab, ab, ab, ab (or just ab) AAbb —> = Ab, Ab, Ab, Ab (or just Ab)aaBB —> = aB,aB, aB, aB (or just aB) Aabb —> = Ab, Ab, ab, ab (or just Ab, ab) aaBb —> = aB, aB, ab, ab (or just aB, ab)Practice Dihybrid RrYy x RrYy R = round, r = wrinkled Y = yellow, y = green Figure out allele combinations 1s* plant? Ry, Ry, ry, ry 2nd plant? Ry, Ry, ry, ryPractice Dihybrid Place on top and side of Punnett square/Fill in boxes Figure out phenotypic ratiosOther patterns of inheritance its not all as simple as I've made it out to e! Not all traits are completely dominant Several other patterns of inheritance Incomplete dominance Codominance Sex-linked Polygenic traits Multiple alleles PleiotropyIncomplete dominance Pattern of inheritance in which heterozygous offspring show a phenotype between the phenotypes of the parents (somewhere in the middle) Neither allele expressed fully Ex. Flower color in snapdragons Red flower + white flower = pink flower Ex. Cow color Red (brown) bull + white cow = roan (pink) cow eeIncomplete dominance example mr RR White Red rRExample Punnett- Incomplete Dominance Knowing that four o'clock flowers show a pattern of incomplete dominance, create a Punnett showing a cross of a two pink four o'clocks (r= red, w= white).Codominance Pattern of inheritance where both alleles in the heterozygous offspring are fully expressed Ex. Human blood type Type = Phenotype, Letters = genotype Type A: AA, AO (homo and heterozygous) Type B: BB, BO (homo and heterozygous) Type AB: AB (Only heterozygous) Type O: OO (Only homozygous)Example Punnett- Codominance Knowing that blood type shows a pattern of codominance, cross a person with type O blood and one with type AB blood.Sex-Linked Pattern of Inheritance Phenotypic expression of an allele that is dependent on the gender of the individual Carried on either sex chromosome (X or Y) Remember: Men = XY, Woman = XX Many more genes carried on the X chromosome, so many more X-linked traits than Y-linked traits Ex. Hemophilia, color-blindness If have one healthy X, it dominates over the infected X (in females) If have only one infected X, Y can't dominate over itSex-Linked Inheritance Pattern X-linked recessive, carrier mother —E Unaffected (Rh came: father mother ) \/ xy x Hi Unattectes Catiectea ) (carrier 4 Wai 18 by Vi Unaltected Unaffected Carrier. fected son daughter daughter ‘son U.S. National Library of MedicineSex-linked Example Knowing that color blindness is a sex- linked trait, cross a carrier female with a non-infected male and determine the probability of this couple having a color blind child.Pleiotropy Single gene affects more than one trait Ex. Sickle cell disease, Marfan's syndrome one Gene x (®) © @)— one) Several sane Traits OO is)Polygenic traits One trait controlled by two or more genes Ex. Human skin colorsMultiple alleles More than two alleles for the same gene Ex. Human blood type (phenotypes produced by 3 different alleles)Pedigree Most knowledge of human genetics comes from studying patterns of heredity in populations and families The best way to do this is by creating a pedigree Chart that shows how a trait and the genes that control it are passed through a familyPedigree (cont.) Circle = female Square = male [FO Empty circle: doesn't have trait (non- carrier) Half shaded: carrier of trait (heterozygous individual that carries a recessive trait but doesn't express it- not shown) Completely shaded: shows traitPedigree example edge SSS wy QO) FT show: [Tee] ENokss A Twoles Fou kege eI ry ta pole ee Hk ed ke ps :British Royal Family- Hemophilia PediRecessive Traits Carrier's not affected by recessive trait Can pass trait on to offspring In case of diseases, doesn't have the disease but can give disease to their children (How would this happen?)Tay-Sachs 4 ae Recessive Ded Fatal genetic disorder : z= 24 Causes fat build-up in the brain Found mostly in the Jewish commune (Why is that?)Cystic Fibrosis Recessive Fatal disease (mostly in chil Causes excessive secretion of thick mucus (can't break it down) Found mostly in Caucasian communityChromosome #7 a » 4 met (ne mo > oy P f y CFTR \. vl / gene [EJ The most common aele that [EJ Normal CFTRis a chloride ion [GJ The cels in the person's airways are causes cystic fibrosis is channel in cell membranes. unable o anspor chlorde los. As missing 3 DNA bases, Asa ‘Abnormal CFTR cannot be a result, the always become resull, the amino acid transported the eal logged wih a thick mucus. phenylalanine is missing fom membrane. ‘the CFTR proteinSickle Cell Anemia cjec Recessive Causes red blood cells to form into sickle shape (half moon) Can't carry oxygen well Found mostly in the African-American communityAlbinism Recessive True albinos have no skin pig! Can't produce melanin Can affect people of all racesDominant Traits Always expressed in person's genotype Freckles, widow's peak, brown eyes Dominant diseases less common than recessive because person usually dies before passing on the traitPolydactyly Dominant Extra fingers and/or toes Usually removed at birthHuntington's Disease Dominant Results in deterioration of the system Don't usually develop symptoms until 30's or 40'sAchondroplasia Dominant Bone growth development diseas Results in dwarfismGenetic Counseling More people aware of genetic problems Can have DNA tested to determine if they are carriers for most diseases