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Mendel and Heredity Chapter 8 8.1 The Origins of Genetics  Heredity is the passing of characters from parents to offspring   Used throughout history to alter crops and domestic animals Gregor Johann Mendel – Austrian Monk   Used pea plants and bred different varieties Developed rules to accurately predict patterns of heredity Why Peas?  2 characters have clearly different forms    Male and female reproductive parts are in same flower    Character = inherited characteristic (color) Trait = single form of character (purple) Can control fertilization Flower can fertilize itself (selffertilization) or can cross pollen from 1 plant to another (cross-pollination) Peas are small, grow easily, mature quickly, and produces many seeds so results obtained quickly Traits Expressed as Simple Ratios   Mendel started by looking at 1 characteristic (monohybrid), such as color, with 1 pair of contrasting traits, purple or white flowers Only allowed plants to self-pollinate for many generations    True-breeding – all offspring show only 1 trait Parental (P) generation Cross pollinated 2 P generation plants with contrasting traits   Offspring called filial (F1) generation Counted numbers of each trait  Allowed F1 generation to self pollinate   Offspring called F2 generation Each characterized and counted Mendel’s Results    F1 showed only 1 form of character other had disappeared When F1 self pollinates other trait reappears in some of F2 Found ratio of traits to be 3 to 1   3 white flowers to 1 purple flower Same ratio found for any trait he studied 8.2 Mendel’s Theory  We used to think offspring were blend of traits   Tall x short = medium Mendel’s experiments showed us this is not entirely true Mendel’s Hypothesis   There are 2 copies of a gene, one from each parent, for each inherited characteristic There are different versions of genes called “alleles”    Tall or short When both versions are present one may be dominant (completely expressed) and the other may be recessive (not expressed when dominant is present) When you form gametes, alleles separate independently so only one allele in each gamete Mendel’s Finding in Modern Terms  Use letters to show alleles Capitol = dominant (T, P, Y, etc…)  Lower case = recessive (t, p, y, etc…)  Homozygous = letters are same   Homozygous dominant = TT, PP  Homozygous recessive = tt, pp  Heterozygous = letters are different  Tt, Pp  Only dominant allele is expressed  Genotype = set of alleles What you actually have  TT, Tt, or tt   Phenotype = what is expressed How it looks  Tall, Tall, or Short  Mendel’s Laws of Heredity  Law of Segregation    2 alleles for a character segregate when gametes are formed Behavior of chromosomes during meiosis Law of Independent Assortment    1 character does not affect another Alleles of different genes separate independently of on another Now know this only applies to genes located on different chromosomes or that are far apart on same chromosome 8.3 Studying Heredity: Punnett Squares   Breeders want certain characteristics when they breed (cross) animals Horticulturists produce plants with specific characteristics  Punnett Square Used to predict outcomes  Shows all possible combinations of gametes  Put 1st parents genotype on top  Put 2nd parents genotype on side  Do the cross  TT Tt Tt tt • So in Mendel’s F1 generation, a pure Tall plant bred with a pure short plant can only give 1 kind of offspring due to dominance of tall allele Determining Unknown Genotypes How do you know if a tall plant is homozygous or heterozygous? They both look tall  Can do a Test Cross   If dominant phenotype is shown with unknown genotype, cross it with homozygous recessive Test Cross Results  If unknown is homozygous dominant, all offspring of test cross will have dominant trait Test Cross Results  If unknown is heterozygous, offspring of test cross will have 2 dominant and 2 recessive phenotypes Can use probability calculations to predict results of genetic crosses  Probability is the likelihood a specific event will occur  Probability = # of 1 kind of possible outcome divided by total number of possible outcomes  We will express these as fractions  Chance a coin will come up heads   1 head / 2 sides = ½    DD = ¼ Dd = 2/4 or ½ dd = ¼ Dihybrid Cross Uses a Punnett Square to determine outcomes of 2 traits at one time  Example: Surface and Color  Surface:  Color:   RR, Rr, or rr YY, Yy, yy round or wrinkled yellow or green What are the possible combinations?  RY, Ry, rY, ry  So if you have 2 purebred homozygous parents RRYY and rryy and you mate them, what do you get?   All offspring will be RrYy What if you have F1 breed? Make a Punnett Square of possible gametes for each parent  What possible combos can parents offer?   Do you remember FOIL?  RY, Ry, rY, ry You never have to count the results of a dihybrid cross between heterozygotes! 9 with both dominant traits  3 with first dominant and second recessive  3 with first recessive and second dominant  1 with both recessive traits  So 9:3:3:1  Inheritance of Traits  Pedigree    Family history that shows how a trait is inherited over several generations Helpful in tracking genetic disorders Carrier – have allele for trait but show no symptoms Things You Can Find From A Pedigree  Autosomal or SexLinked? If autosomal it will be equal in both sexes  If sex linked generally only found in males  Y linked  X Hairy ear rims linked   Color-blindness Hemophilia  Dominant or recessive  Autosomal Dominant – every individual with condition will have parent with condition    Achondroplasia – type of dwarfism Huntington’s Disease – brain degenerates Autosomal Recessive – 1, 2, or no parents with condition    Cystic fibrosis Sickle cell anemia Albinism  Heterozygous or Homozygous    Autosomal homozygous dominant or heterozygous phenotype will show dominant allele Homozygous recessive will show recessive allele 2 heterozygous of recessive allele don’t show condition but can have children that do 8.4 Complex Patterns of Heredity  Complex Control Most of the time characters display much more complex patterns than simple dominantrecessive patterns  Characters can be influenced by several genes  Polygenic Inheritance       Several genes affect a character These genes may be scattered along same chromosome or on different chromosomes Determining the effect of any one gene is difficult Crossing over and independent assortment create many different offspring combos Eye color, height, weight, hair, intelligence, and skin color Usually gives a range of expression Polygenic Inheritance Intermediate Characters  Incomplete dominance  Phenotype that is intermediate between 2 parents, neither is completely dominant   White x red = pink Straight hair x curly hair = wavy hair Multiple Alleles  Characters controlled by genes with 3+ alleles Humans have ABO blood types  IA, IB, i  Letters A and B refer to carbohydrates on surface of red blood cells  i has neither carbohydrate  IA and IB are dominant over I, but not over each other (codominant)  Still only 2 possibilities in a person  Blood Types     2 forms are displayed at the same time Codominance – both expressed, not blended IAIB both expressed ii = Type O Characters Influenced by Environment   Plants may change color based on pH of soil Arctic fox    Siamese cats   Summer – enzymes produce pigments for darker fur Winter – no enzymes, no pigments to darken fur Dark fur in cooler parts Humans    Height related to nutrition Skin color based on sun exposure Twins are genetically identical, any difference is due to environment Genetic Disorders    Proteins encoded by genes must function precisely for normal development and function Genes may be damaged or copied wrong causing faulty proteins Mutation = changes in genetic material   Rare because cells try to correct errors Harmful effects produced by inherited mutations  Many carried by recessive alleles Sickle Cell Anemia     Recessive genetic disorder Mutated allele produces defective form of hemoglobin causing red blood cells (rbc) to be misshapen These rupture easily causing less O2 to be carried and may get stuck and cut off blood supply Recessive allele protects heterozygous individuals from malaria   Parasites in sickle rbc die Normal rbc still transport oxygen Cystic Fibrosis      Most common fatal, hereditary, recessive disorder in Caucasions 1 in 25 has at least 1 copy of defective gene that makes a protein needed to move chloride in and out of cells Mucus clogs organs 1 in 2,500 homozygous for cystic fibrosis No cure Hemophilia Impairs bloods ability to clot  Sex-linked  Dozen+ genes code for clotting proteins  1 mutation on X chromosome causes Hemophilia A  Males only get 1 X chromosome  Huntington’s Disease dominant allele on autosome  1st symptoms - mild forgetfulness and irritability in 30’s and 40’s  Eventually lose muscle control, spasms, severe mental illness, and death  Treating Genetic Disorders Most can’t be cured  Genetic Counseling – tells of possible genetic problems with offspring, may be treated if early enough  Phenylketonuria (PKU) Lack enzyme that converts amino acid phenylalanine into tyrosine so it builds up in the body and causes severe mental retardation  Can be placed on phenylalenic diet  Gene Therapy  Replace defective genes with normal ones Isolate copy of gene  Put working copy into a virus  Virus infects and puts gene in  Infected cells are cured   Still trying to get this to work
 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
									 
                                             
                                             
                                             
                                             
                                             
                                             
                                             
                                             
                                             
                                             
                                            